A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10568709



Internal ID3921817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85252336..85252992hg38UCSC Ensembl
Innerchr2:85252362..85252966hg38UCSC Ensembl
Outerchr2:85252310..85253018hg38UCSC Ensembl
chr2:85479459..85480115hg19UCSC Ensembl
Innerchr2:85479485..85480089hg19UCSC Ensembl
Outerchr2:85479433..85480141hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38657
hg19657
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591529
Supporting Variants
SamplesHG03575
Known GenesTCF7L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10568709
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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