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dbVar

Database of genomic structural variation

esv29955

Organism: Homo sapiens

Study:estd21 (Wheeler et al. 2008)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Yes
Clinical Assertions: No
Region Size:204,535

Publication(s):Wheeler et al. 2008

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: 4534 SVs from 99 studies. See in: genome view

Remapped(Score: Perfect):105,545,378-105,749,141

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv29955	Remapped	Perfect	GRCh38.p12	Primary Assembly	Second Pass	NC_000014.9	Chr14	105,545,378	105,749,141
esv29955	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_1	First Pass	NT_187600.1	Chr14\|NT_1 87600.1	12,376	216,910
esv29955	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000014.8	Chr14	106,011,715	106,215,478
esv29955	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004166863.1	Chr14\|NW_0 04166863.1	208,545	412,308
esv29955	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000014.7	Chr14	105,082,760	105,286,523

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv84194	copy number loss	WATSON	Oligo aCGH	Probe signal intensity	23

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv84194	Remapped	Good	NT_187600.1:g.(?_1 2376)_(216910_?)de l	GRCh38.p12	First Pass	NT_187600.1	Chr14\|NT_1 87600.1	12,376	216,910
essv84194	Remapped	Perfect	NC_000014.9:g.(?_1 05545378)_(1057491 41_?)del	GRCh38.p12	Second Pass	NC_000014.9	Chr14	105,545,378	105,749,141
essv84194	Remapped	Perfect	NW_004166863.1:g.( ?_208545)_(412308_ ?)del	GRCh37.p13	First Pass	NW_004166863.1	Chr14\|NW_0 04166863.1	208,545	412,308
essv84194	Remapped	Perfect	NC_000014.8:g.(?_1 06011715)_(1062154 78_?)del	GRCh37.p13	Second Pass	NC_000014.8	Chr14	106,011,715	106,215,478
essv84194	Submitted genomic		NC_000014.7:g.(?_1 05082760)_(1052865 23_?)del	NCBI36 (hg18)		NC_000014.7	Chr14	105,082,760	105,286,523

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv84194	2	WATSON	Oligo aCGH	Probe signal intensity	Fail
essv84194	4	WATSON	Oligo aCGH	Probe signal intensity	Fail
essv84194	3	WATSON	Sequencing	Read depth	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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