A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10832992



Internal ID2999135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208255365..208261616hg38UCSC Ensembl
Innerchr2:208255865..208261116hg38UCSC Ensembl
Outerchr2:208254365..208262616hg38UCSC Ensembl
chr2:209120089..209126340hg19UCSC Ensembl
Innerchr2:209120589..209125840hg19UCSC Ensembl
Outerchr2:209119089..209127340hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg386252
hg196252
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594112
Supporting Variants
SamplesHG02646
Known GenesIDH1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10832992
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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