A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990044



Internal ID12983727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675753..136842783hg38UCSC Ensembl
Innerchr8:137687996..137855026hg19UCSC Ensembl
Innerchr8:137757178..137924208hg18UCSC Ensembl
Innerchr8:137757178..137924208hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38167031
hg19167031
hg18167031
hg17167031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752228
Supporting Variants
SamplesSPC_194
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990044
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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