A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989601



Internal ID12973451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675987..136844071hg38UCSC Ensembl
Innerchr8:137688230..137856314hg19UCSC Ensembl
Innerchr8:137757412..137925496hg18UCSC Ensembl
Innerchr8:137757412..137925496hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38168085
hg19168085
hg18168085
hg17168085
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34538
Supporting Variants
SamplesBEC_408
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989601
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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