A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986665



Internal ID12978856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:10201376..10244176hg38UCSC Ensembl
Innerchr2:10341502..10384302hg19UCSC Ensembl
Innerchr2:10258953..10301753hg18UCSC Ensembl
Innerchr2:10292100..10334900hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3842801
hg1942801
hg1842801
hg1742801
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)essv6986665
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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