A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752158



Internal ID12985710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:51548094..51771495hg38UCSC Ensembl
Innerchr7:51615791..51839191hg19UCSC Ensembl
Innerchr7:51583285..51806685hg18UCSC Ensembl
Innerchr7:51390000..51613400hg17UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38223402
hg19223401
hg18223401
hg17223401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988540, essv6982459, essv6982458, essv6986180, essv6982460
SamplesBEC_447
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)esv2752158
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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