A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752239



Internal ID12985791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675881..136873575hg38UCSC Ensembl
Innerchr8:137688124..137885818hg19UCSC Ensembl
Innerchr8:137757306..137955000hg18UCSC Ensembl
Innerchr8:137757306..137955000hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38197695
hg19197695
hg18197695
hg17197695
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv252e55
Supporting Variantsessv6989562, essv6982064, essv6982065, essv6989280, essv6989561
SamplesBEC_516
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)esv2752239
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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