A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988538



Internal ID12627061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31394533..31481492hg38UCSC Ensembl
Innerchr6:31362310..31449269hg19UCSC Ensembl
Innerchr6:31470289..31557248hg18UCSC Ensembl
Innerchr6:31470289..31557248hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3886960
hg1986960
hg1886960
hg1786960
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752122
Supporting Variants
SamplesBEC_445
Known GenesHCG26, HCP5, MICA
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988538
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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