A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751766



Internal ID12985318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:56071113..56090492hg38UCSC Ensembl
Innerchr17:54148474..54167853hg19UCSC Ensembl
Innerchr17:51503473..51522852hg18UCSC Ensembl
Innerchr17:51503473..51522852hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3819380
hg1919380
hg1819380
hg1719380
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989914, essv6989412
SamplesBEC_774
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)esv2751766
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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