A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752209



Internal ID12985761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:13367297..13460740hg38UCSC Ensembl
Innerchr8:13224806..13318249hg19UCSC Ensembl
Innerchr8:13269177..13362620hg18UCSC Ensembl
Innerchr8:13269177..13362620hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3893444
hg1993444
hg1893444
hg1793444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989418, essv6984200
SamplesBEC_8
Known GenesDLC1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752209
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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