A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605937



Internal ID6992874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:99378592..99379618hg38UCSC Ensembl
Innerchr5:99378594..99379616hg38UCSC Ensembl
Outerchr5:99378590..99379620hg38UCSC Ensembl
chr5:98714296..98715322hg19UCSC Ensembl
Innerchr5:98714298..98715320hg19UCSC Ensembl
Outerchr5:98714294..98715324hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg381027
hg191027
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11992429, essv11992408, essv11992423, essv11992418, essv11992412, essv11992425, essv11992430, essv11992419, essv11992409, essv11992432, essv11992420, essv11992413, essv11992431, essv11992427, essv11992414, essv11992422, essv11992435, essv11992434, essv11992424, essv11992428, essv11992426, essv11992421, essv11992411, essv11992433, essv11992417, essv11992415, essv11992410, essv11992416
SamplesNA19394, HG03175, NA18870, HG03091, HG01170, HG02427, HG03058, HG03583, NA20318, HG03511, NA19347, HG02678, HG02878, HG01161, HG01241, HG03446, HG01988, HG03064, HG02255, NA19206, HG03437, HG02759, NA20276, NA19454, HG01494, NA19328, HG02052, NA19129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605937
Frequency
Sample Size2504
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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