esv2758166

Organism: Homo sapiens

Study:estd1 (Redon et al. 2006)
Variant Type:copy number variation
Method Type:BAC aCGH
Submitted on:NCBI35 (hg17)

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:167,834

Publication(s):Redon et al. 2006

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 705 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):99,016,620-99,184,453

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2758166	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	99,016,620	99,184,453
esv2758166	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	100,028,848	100,196,681
esv2758166	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000008.9	Chr8	100,098,024	100,265,857

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv10358	copy number gain	NA18506	BAC aCGH	Probe signal intensity	121
essv11718	copy number gain	NA19154	BAC aCGH	Probe signal intensity	139
essv16993	copy number gain	NA19144	BAC aCGH	Probe signal intensity	157
essv21732	copy number gain	NA12248	BAC aCGH	Probe signal intensity	109
essv4857	copy number gain	NA18540	BAC aCGH	Probe signal intensity	75
essv5338	copy number gain	NA18563	BAC aCGH	Probe signal intensity	139
essv8248	copy number gain	NA19116	BAC aCGH	Probe signal intensity	95
essv872	copy number gain	NA19000	BAC aCGH	Probe signal intensity	93
essv9929	copy number gain	NA19145	BAC aCGH	Probe signal intensity	115

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv10358	Remapped	Perfect	NC_000008.11:g.(?_ 99016620)_(9918445 3_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	99,016,620	99,184,453
essv11718	Remapped	Perfect	NC_000008.11:g.(?_ 99016620)_(9918445 3_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	99,016,620	99,184,453
essv16993	Remapped	Perfect	NC_000008.11:g.(?_ 99016620)_(9918445 3_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	99,016,620	99,184,453
essv21732	Remapped	Perfect	NC_000008.11:g.(?_ 99016620)_(9918445 3_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	99,016,620	99,184,453
essv4857	Remapped	Perfect	NC_000008.11:g.(?_ 99016620)_(9918445 3_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	99,016,620	99,184,453
essv5338	Remapped	Perfect	NC_000008.11:g.(?_ 99016620)_(9918445 3_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	99,016,620	99,184,453
essv8248	Remapped	Perfect	NC_000008.11:g.(?_ 99016620)_(9918445 3_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	99,016,620	99,184,453
essv872	Remapped	Perfect	NC_000008.11:g.(?_ 99016620)_(9918445 3_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	99,016,620	99,184,453
essv9929	Remapped	Perfect	NC_000008.11:g.(?_ 99016620)_(9918445 3_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	99,016,620	99,184,453
essv10358	Remapped	Perfect	NC_000008.10:g.(?_ 100028848)_(100196 681_?)dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	100,028,848	100,196,681
essv11718	Remapped	Perfect	NC_000008.10:g.(?_ 100028848)_(100196 681_?)dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	100,028,848	100,196,681
essv16993	Remapped	Perfect	NC_000008.10:g.(?_ 100028848)_(100196 681_?)dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	100,028,848	100,196,681
essv21732	Remapped	Perfect	NC_000008.10:g.(?_ 100028848)_(100196 681_?)dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	100,028,848	100,196,681
essv4857	Remapped	Perfect	NC_000008.10:g.(?_ 100028848)_(100196 681_?)dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	100,028,848	100,196,681
essv5338	Remapped	Perfect	NC_000008.10:g.(?_ 100028848)_(100196 681_?)dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	100,028,848	100,196,681
essv8248	Remapped	Perfect	NC_000008.10:g.(?_ 100028848)_(100196 681_?)dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	100,028,848	100,196,681
essv872	Remapped	Perfect	NC_000008.10:g.(?_ 100028848)_(100196 681_?)dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	100,028,848	100,196,681
essv9929	Remapped	Perfect	NC_000008.10:g.(?_ 100028848)_(100196 681_?)dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	100,028,848	100,196,681
essv10358	Submitted genomic		NC_000008.9:g.(?_1 00098024)_(1002658 57_?)dup	NCBI35 (hg17)		NC_000008.9	Chr8	100,098,024	100,265,857
essv11718	Submitted genomic		NC_000008.9:g.(?_1 00098024)_(1002658 57_?)dup	NCBI35 (hg17)		NC_000008.9	Chr8	100,098,024	100,265,857
essv16993	Submitted genomic		NC_000008.9:g.(?_1 00098024)_(1002658 57_?)dup	NCBI35 (hg17)		NC_000008.9	Chr8	100,098,024	100,265,857
essv21732	Submitted genomic		NC_000008.9:g.(?_1 00098024)_(1002658 57_?)dup	NCBI35 (hg17)		NC_000008.9	Chr8	100,098,024	100,265,857
essv4857	Submitted genomic		NC_000008.9:g.(?_1 00098024)_(1002658 57_?)dup	NCBI35 (hg17)		NC_000008.9	Chr8	100,098,024	100,265,857
essv5338	Submitted genomic		NC_000008.9:g.(?_1 00098024)_(1002658 57_?)dup	NCBI35 (hg17)		NC_000008.9	Chr8	100,098,024	100,265,857
essv8248	Submitted genomic		NC_000008.9:g.(?_1 00098024)_(1002658 57_?)dup	NCBI35 (hg17)		NC_000008.9	Chr8	100,098,024	100,265,857
essv872	Submitted genomic		NC_000008.9:g.(?_1 00098024)_(1002658 57_?)dup	NCBI35 (hg17)		NC_000008.9	Chr8	100,098,024	100,265,857
essv9929	Submitted genomic		NC_000008.9:g.(?_1 00098024)_(1002658 57_?)dup	NCBI35 (hg17)		NC_000008.9	Chr8	100,098,024	100,265,857

dbVar

Database of genomic structural variation

esv2758166

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant