A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987007



Internal ID12634587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75600919..75679819hg38UCSC Ensembl
Innerchr2:75828045..75906945hg19UCSC Ensembl
Innerchr2:75681553..75760453hg18UCSC Ensembl
Innerchr2:75739700..75818600hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3878901
hg1978901
hg1878901
hg1778901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35142
Supporting Variants
SamplesNA18956
Known GenesGCFC2, MRPL19
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987007
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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