A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983940



Internal ID12977408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136755575..136812575hg38UCSC Ensembl
Innerchr8:137767818..137824818hg19UCSC Ensembl
Innerchr8:137837000..137894000hg18UCSC Ensembl
Innerchr8:137837000..137894000hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg3857001
hg1957001
hg1857001
hg1757001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752232
Supporting Variants
SamplesBEC_735
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983940
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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