A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983225



Internal ID12628332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43686110..43749110hg38UCSC Ensembl
Innerchr2:43913249..43976249hg19UCSC Ensembl
Innerchr2:43766753..43829753hg18UCSC Ensembl
Innerchr2:43824900..43887900hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3863001
hg1963001
hg1863001
hg1763001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751891
Supporting Variants
SamplesBEC_557
Known GenesPLEKHH2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983225
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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