A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10447555



Internal ID3011227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31959835..31971433hg38UCSC Ensembl
Innerchr2:31959896..31971373hg38UCSC Ensembl
Outerchr2:31959775..31971494hg38UCSC Ensembl
chr2:32184904..32196502hg19UCSC Ensembl
Innerchr2:32184965..32196442hg19UCSC Ensembl
Outerchr2:32184844..32196563hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3811599
hg1911599
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590233
Supporting Variants
SamplesHG02652
Known GenesMEMO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10447555
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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