A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10876689



Internal ID6074410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231984903..231992530hg38UCSC Ensembl
Innerchr2:231984953..231992480hg38UCSC Ensembl
Outerchr2:231984796..231992637hg38UCSC Ensembl
chr2:232849613..232857240hg19UCSC Ensembl
Innerchr2:232849663..232857190hg19UCSC Ensembl
Outerchr2:232849506..232857347hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg387628
hg197628
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594638
Supporting Variants
SamplesNA19462
Known GenesDIS3L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10876689
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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