A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982837



Internal ID12628945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31450244..31469544hg38UCSC Ensembl
Innerchr6:31418021..31437321hg19UCSC Ensembl
Innerchr6:31526000..31545300hg18UCSC Ensembl
Innerchr6:31526000..31545300hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3819301
hg1919301
hg1819301
hg1719301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752123
Supporting Variants
SamplesBEC_603
Known GenesHCP5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982837
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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