A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594673



Internal ID6634949
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10879472
SamplesHG00246
Known GenesSAG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594673
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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