A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13687157



Internal ID2989249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:5872727..5874035hg38UCSC Ensembl
Innerchr10:5872951..5873975hg38UCSC Ensembl
Outerchr10:5872562..5874200hg38UCSC Ensembl
chr10:5914690..5915998hg19UCSC Ensembl
Innerchr10:5914914..5915938hg19UCSC Ensembl
Outerchr10:5914525..5916163hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg381309
hg191309
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622239
Supporting Variants
SamplesHG02642
Known GenesANKRD16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13687157
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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