A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752228



Internal ID12985780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675712..136842783hg38UCSC Ensembl
Innerchr8:137687955..137855026hg19UCSC Ensembl
Innerchr8:137757137..137924208hg18UCSC Ensembl
Innerchr8:137757137..137924208hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38167072
hg19167072
hg18167072
hg17167072
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv252e55
Supporting Variantsessv6990044, essv6984928, essv6984929, essv6989462
SamplesSPC_194
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752228
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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