A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989063



Internal ID12979588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136677301..136842783hg38UCSC Ensembl
Innerchr8:137689544..137855026hg19UCSC Ensembl
Innerchr8:137758726..137924208hg18UCSC Ensembl
Innerchr8:137758726..137924208hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38165483
hg19165483
hg18165483
hg17165483
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34324
Supporting Variants
SamplesNA12874
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989063
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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