A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12116545



Internal ID2118361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160723641..160726325hg38UCSC Ensembl
Innerchr5:160723645..160726322hg38UCSC Ensembl
Outerchr5:160723638..160726329hg38UCSC Ensembl
chr5:160150648..160153332hg19UCSC Ensembl
Innerchr5:160150652..160153329hg19UCSC Ensembl
Outerchr5:160150645..160153336hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg382685
hg192685
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607378
Supporting Variants
SamplesHG01125
Known GenesATP10B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12116545
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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