A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752257



Internal ID12985809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:55867087..55969887hg38UCSC Ensembl
Innerchr8:56779646..56882446hg19UCSC Ensembl
Innerchr8:56942200..57045000hg18UCSC Ensembl
Innerchr8:56942200..57045000hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38102801
hg19102801
hg18102801
hg17102801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981552, essv6985605, essv6981553, essv6981551, essv6985606
SamplesBEC_299
Known GenesLYN
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)esv2752257
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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