A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979605



Internal ID12633764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:29036283..30267583hg38UCSC Ensembl
Innerchr2:29259149..30490449hg19UCSC Ensembl
Innerchr2:29112653..30343953hg18UCSC Ensembl
Innerchr2:29170800..30402100hg17UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg381231301
hg191231301
hg181231301
hg171231301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34904
Supporting Variants
SamplesNA18579
Known GenesALK, C2orf71, CLIP4, FAM179A, LBH, YPEL5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979605
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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