A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978625



Internal ID12978853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:10201342..10244163hg38UCSC Ensembl
Innerchr2:10341468..10384289hg19UCSC Ensembl
Innerchr2:10258919..10301740hg18UCSC Ensembl
Innerchr2:10292066..10334887hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3842822
hg1942822
hg1842822
hg1742822
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34981
Supporting Variants
SamplesNA12043
Known GenesC2orf48
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978625
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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