A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982805



Internal ID12975568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374449..12585653hg38UCSC Ensembl
Innerchr8:12231958..12443162hg19UCSC Ensembl
Innerchr8:12276329..12487533hg18UCSC Ensembl
Innerchr8:12276329..12487533hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38211205
hg19211205
hg18211205
hg17211205
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752205
Supporting Variants
SamplesBEC_596
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)essv6982805
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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