A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979606



Internal ID12633765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:29036291..30267576hg38UCSC Ensembl
Innerchr2:29259157..30490442hg19UCSC Ensembl
Innerchr2:29112661..30343946hg18UCSC Ensembl
Innerchr2:29170808..30402093hg17UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg381231286
hg191231286
hg181231286
hg171231286
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)essv6979606
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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