A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979589



Internal ID12633746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:162134126..162407526hg38UCSC Ensembl
Innerchr1:162103916..162377316hg19UCSC Ensembl
Innerchr1:160370540..160643940hg18UCSC Ensembl
Innerchr1:158835574..159108974hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38273401
hg19273401
hg18273401
hg17273401
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, SH2D1B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979589
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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