A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11938525



Internal ID1940341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:70989806..71114782hg38UCSC Ensembl
Innerchr5:70990306..71114282hg38UCSC Ensembl
Outerchr5:70988806..71115782hg38UCSC Ensembl
chr5:70285633..70410609hg19UCSC Ensembl
Innerchr5:70286133..70410109hg19UCSC Ensembl
Outerchr5:70284633..70411609hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38124977
hg19124977
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605385
Supporting Variants
SamplesHG00731
Known GenesGTF2H2, LOC647859, NAIP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11938525
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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