A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604814



Internal ID6991842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40334191..40351976hg38UCSC Ensembl
Innerchr5:40334201..40351966hg38UCSC Ensembl
Outerchr5:40334181..40351986hg38UCSC Ensembl
chr5:40334293..40352078hg19UCSC Ensembl
Innerchr5:40334303..40352068hg19UCSC Ensembl
Outerchr5:40334283..40352088hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3817786
hg1917786
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11875548, essv11875549, essv11875545, essv11875550, essv11875547, essv11875542, essv11875541, essv11875552, essv11875551, essv11875540, essv11875546, essv11875543, essv11875544
SamplesNA19028, NA19909, HG03126, HG02952, HG02634, HG02477, NA19913, NA19113, NA20276, NA19474, HG01105, HG02861, HG03198
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604814
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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