A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607624



Internal ID6994556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:174213249..174215773hg38UCSC Ensembl
Innerchr5:174213250..174215773hg38UCSC Ensembl
Outerchr5:174213249..174215774hg38UCSC Ensembl
chr5:173640252..173642776hg19UCSC Ensembl
Innerchr5:173640253..173642776hg19UCSC Ensembl
Outerchr5:173640252..173642777hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg382525
hg192525
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12135448, essv12135450, essv12135444, essv12135454, essv12135447, essv12135446, essv12135456, essv12135452, essv12135453, essv12135459, essv12135449, essv12135455, essv12135451, essv12135457, essv12135458, essv12135445
SamplesHG02496, HG02549, HG03578, HG03224, NA20287, HG02489, HG03189, HG03212, HG03073, HG03058, HG03343, HG03027, HG02979, HG02675, HG03240, HG03196
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607624
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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