A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594939



Internal ID6635214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:991146..997835hg38UCSC Ensembl
Innerchr3:991146..997835hg38UCSC Ensembl
Outerchr3:990850..998102hg38UCSC Ensembl
chr3:1032830..1039519hg19UCSC Ensembl
Innerchr3:1032830..1039519hg19UCSC Ensembl
Outerchr3:1032534..1039786hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg386690
hg196690
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10898253, essv10898256, essv10898249, essv10898263, essv10898257, essv10898261, essv10898251, essv10898271, essv10898258, essv10898259, essv10898265, essv10898262, essv10898250, essv10898268, essv10898252, essv10898266, essv10898267, essv10898264, essv10898269, essv10898255, essv10898254, essv10898270, essv10898260
SamplesNA18881, HG03130, HG03455, HG03172, HG03069, NA19107, HG03578, NA19024, HG03267, HG03160, NA19175, HG02968, NA18907, NA20299, NA18909, HG02580, NA18501, HG03157, NA19223, NA19121, HG02851, NA18522, HG03129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594939
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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