A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987660



Internal ID12636715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63545953..63726053hg38UCSC Ensembl
Innerchr12:63939733..64119833hg19UCSC Ensembl
Innerchr12:62226000..62406100hg18UCSC Ensembl
Innerchr12:62226000..62406100hg17UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38180101
hg19180101
hg18180101
hg17180101
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)essv6987660
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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