A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10537948



Internal ID5292739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70989968..71000981hg38UCSC Ensembl
Innerchr2:70989980..71000969hg38UCSC Ensembl
Outerchr2:70989956..71000993hg38UCSC Ensembl
chr2:71217098..71228111hg19UCSC Ensembl
Innerchr2:71217110..71228099hg19UCSC Ensembl
Outerchr2:71217086..71228123hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3811014
hg1911014
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591215
Supporting Variants
SamplesNA18747
Known GenesTEX261
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10537948
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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