A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10722837



Internal ID724653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:156441659..156443069hg38UCSC Ensembl
Innerchr2:156441670..156443059hg38UCSC Ensembl
Outerchr2:156441649..156443080hg38UCSC Ensembl
chr2:157298171..157299581hg19UCSC Ensembl
Innerchr2:157298182..157299571hg19UCSC Ensembl
Outerchr2:157298161..157299592hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg381411
hg191411
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593037
Supporting Variants
SamplesHG03856
Known GenesGPD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10722837
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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