A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752146



Internal ID12985698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:118098995..118151995hg38UCSC Ensembl
Innerchr7:117739049..117792049hg19UCSC Ensembl
Innerchr7:117526285..117579285hg18UCSC Ensembl
Innerchr7:117333000..117386000hg17UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3853001
hg1953001
hg1853001
hg1753001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982434, essv6989623
SamplesBEC_442
Known Genes
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)esv2752146
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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