A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983376



Internal ID12976192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136677301..136851683hg38UCSC Ensembl
Innerchr8:137689544..137863926hg19UCSC Ensembl
Innerchr8:137758726..137933108hg18UCSC Ensembl
Innerchr8:137758726..137933108hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38174383
hg19174383
hg18174383
hg17174383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752212
Supporting Variants
SamplesBEC_644
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983376
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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