A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752202



Internal ID12639068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12362740..12673495hg38UCSC Ensembl
Innerchr8:12220249..12531004hg19UCSC Ensembl
Innerchr8:12264620..12575375hg18UCSC Ensembl
Innerchr8:12264620..12575375hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38310756
hg19310756
hg18310756
hg17310756
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv246e55
Supporting Variantsessv6982567, essv6988552
SamplesBEC_567
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752202
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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