A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984722



Internal ID12636720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63545960..63880900hg38UCSC Ensembl
Innerchr12:63939740..64274680hg19UCSC Ensembl
Innerchr12:62226007..62560947hg18UCSC Ensembl
Innerchr12:62226007..62560947hg17UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38334941
hg19334941
hg18334941
hg17334941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751110
Supporting Variants
SamplesSPC_169
Known GenesDPY19L2, SRGAP1, TMEM5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984722
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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