A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979587



Internal ID12633742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:162119541..162386680hg38UCSC Ensembl
Innerchr1:162089331..162356470hg19UCSC Ensembl
Innerchr1:160355955..160623094hg18UCSC Ensembl
Innerchr1:158820989..159088128hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38267140
hg19267140
hg18267140
hg17267140
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34209
Supporting Variants
SamplesNA18576
Known GenesC1orf111, C1orf226, MIR4654, MIR556, NOS1AP
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979587
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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