A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983215



Internal ID12975002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12362740..12545432hg38UCSC Ensembl
Innerchr8:12220249..12402941hg19UCSC Ensembl
Innerchr8:12264620..12447312hg18UCSC Ensembl
Innerchr8:12264620..12447312hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38182693
hg19182693
hg18182693
hg17182693
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752200
Supporting Variants
SamplesBEC_556
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983215
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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