A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983897



Internal ID12977353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16111520..16127519hg38UCSC Ensembl
Innerchr8:15969029..15985028hg19UCSC Ensembl
Innerchr8:16013400..16029399hg18UCSC Ensembl
Innerchr8:16013400..16029399hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3816000
hg1916000
hg1816000
hg1716000
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752242
Supporting Variants
SamplesBEC_73
Known GenesMSR1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983897
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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