A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12076780



Internal ID2078596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140632977..140633916hg38UCSC Ensembl
Innerchr5:140633002..140633892hg38UCSC Ensembl
Outerchr5:140632953..140633941hg38UCSC Ensembl
chr5:140012562..140013501hg19UCSC Ensembl
Innerchr5:140012587..140013477hg19UCSC Ensembl
Outerchr5:140012538..140013526hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38940
hg19940
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606953
Supporting Variants
SamplesNA20529
Known GenesCD14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12076780
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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