A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981882



Internal ID12627389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162328557..162530557hg38UCSC Ensembl
Innerchr6:162749589..162951589hg19UCSC Ensembl
Innerchr6:162669579..162871579hg18UCSC Ensembl
Innerchr6:162720000..162922000hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38202001
hg19202001
hg18202001
hg17202001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752098
Supporting Variants
SamplesBEC_497
Known GenesPARK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981882
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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