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dbVar

Database of genomic structural variation

esv2456957

Organism: Homo sapiens

Study:estd197 (McKernan et al. 2009)
Variant Type:insertion
Method Type:Sequencing
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,711

Description:originalFile=Yoruban_large_indels_8.4x.gff
Publication(s):McKernan et al. 2009

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: 395 SVs from 43 studies. See in: genome view

Remapped(Score: Perfect):1,464,061-1,464,843

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv2456957	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	1,464,061	1,464,843
esv2456957	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187654.1	Chr8\|NT_18 7654.1	73,407	75,117
esv2456957	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187565.1	Chr8\|NT_18 7565.1	169,593	170,375
esv2456957	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	1,412,227	1,413,009
esv2456957	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000008.9	Chr8	1,399,634	1,400,416

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5302711	insertion	NA18507	Sequencing	Paired-end mapping	232,775

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv5302711	Remapped	Pass	NT_187654.1:g.(734 07_?)_(?_75117)ins ?	GRCh38.p12	Second Pass	NT_187654.1	Chr8\|NT_18 7654.1	73,407	75,117
essv5302711	Remapped	Perfect	NT_187565.1:g.(169 593_?)_(?_170375)i ns?	GRCh38.p12	Second Pass	NT_187565.1	Chr8\|NT_18 7565.1	169,593	170,375
essv5302711	Remapped	Perfect	NC_000008.11:g.(14 64061_?)_(?_146484 3)ins?	GRCh38.p12	First Pass	NC_000008.11	Chr8	1,464,061	1,464,843
essv5302711	Remapped	Perfect	NC_000008.10:g.(14 12227_?)_(?_141300 9)ins?	GRCh37.p13	First Pass	NC_000008.10	Chr8	1,412,227	1,413,009
essv5302711	Submitted genomic		NC_000008.9:g.(139 9634_?)_(?_1400416 )ins?	NCBI36 (hg18)		NC_000008.9	Chr8	1,399,634	1,400,416

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

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