A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607610



Internal ID6994542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173174937..173186334hg38UCSC Ensembl
Innerchr5:173174937..173186334hg38UCSC Ensembl
Outerchr5:173174437..173186834hg38UCSC Ensembl
chr5:172601940..172613337hg19UCSC Ensembl
Innerchr5:172601940..172613337hg19UCSC Ensembl
Outerchr5:172601440..172613837hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3811398
hg1911398
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12134150, essv12134154, essv12134155, essv12134152, essv12134149, essv12134159, essv12134158, essv12134153, essv12134148, essv12134147, essv12134161, essv12134151, essv12134162, essv12134157, essv12134156, essv12134160
SamplesHG02973, HG03517, HG03130, HG03515, NA20346, NA18870, HG03380, HG03343, HG03081, HG01889, NA20282, HG02546, NA19328, HG03025, HG02053, HG02947
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607610
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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