A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983789



Internal ID12629248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31445144..31513544hg38UCSC Ensembl
Innerchr6:31412921..31481321hg19UCSC Ensembl
Innerchr6:31520900..31589300hg18UCSC Ensembl
Innerchr6:31520900..31589300hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3868401
hg1968401
hg1868401
hg1768401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752118
Supporting Variants
SamplesBEC_627
Known GenesHCG26, HCP5, MICB
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983789
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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