A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988552



Internal ID12628505
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 StatusS
Merged Variantsesv2752202
Supporting Variants
SamplesBEC_567
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)essv6988552
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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