A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980874



Internal ID12635518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:182706259..182901025hg38UCSC Ensembl
Innerchr2:183570986..183765753hg19UCSC Ensembl
Innerchr2:183279231..183473998hg18UCSC Ensembl
Innerchr2:183396492..183591259hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38194767
hg19194768
hg18194768
hg17194768
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34847
Supporting Variants
SamplesNA19139
Known GenesDNAJC10, FRZB
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980874
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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