A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10879472



Internal ID881288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233310733..233317126hg38UCSC Ensembl
Innerchr2:233310733..233317126hg38UCSC Ensembl
Outerchr2:233310430..233317405hg38UCSC Ensembl
chr2:234219379..234225772hg19UCSC Ensembl
Innerchr2:234219379..234225772hg19UCSC Ensembl
Outerchr2:234219076..234226051hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg386394
hg196394
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594673
Supporting Variants
SamplesHG00246
Known GenesSAG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10879472
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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