A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988840



Internal ID12636713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63545960..63762643hg38UCSC Ensembl
Innerchr12:63939740..64156423hg19UCSC Ensembl
Innerchr12:62226007..62442690hg18UCSC Ensembl
Innerchr12:62226007..62442690hg17UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38216684
hg19216684
hg18216684
hg17216684
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751110
Supporting Variants
SamplesSPC_169
Known GenesDPY19L2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988840
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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