A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981551



Internal ID12972304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:55867106..55959543hg38UCSC Ensembl
Innerchr8:56779665..56872102hg19UCSC Ensembl
Innerchr8:56942219..57034656hg18UCSC Ensembl
Innerchr8:56942219..57034656hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3892438
hg1992438
hg1892438
hg1792438
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752257
Supporting Variants
SamplesBEC_299
Known GenesLYN
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981551
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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