A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987988



Internal ID12625712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43576289..43752092hg38UCSC Ensembl
Innerchr2:43803428..43979231hg19UCSC Ensembl
Innerchr2:43656932..43832735hg18UCSC Ensembl
Innerchr2:43715079..43890882hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38175804
hg19175804
hg18175804
hg17175804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751890
Supporting Variants
SamplesBEC_305
Known GenesLOC728819, PLEKHH2, THADA
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987988
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer