A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985621



Internal ID12625741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12145208..12635676hg38UCSC Ensembl
Innerchr8:12002717..12493185hg19UCSC Ensembl
Innerchr8:12040126..12537556hg18UCSC Ensembl
Innerchr8:12040126..12537556hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38490469
hg19490469
hg18497431
hg17497431
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752198
Supporting Variants
SamplesBEC_309
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC649352, LOC729732
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985621
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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