A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35077



Internal ID12991113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:40875741..41000569hg38UCSC Ensembl
Innerchr5:40875843..41000671hg19UCSC Ensembl
Innerchr5:40911600..41036428hg18UCSC Ensembl
Innerchr5:40911600..41036428hg17UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38124829
hg19124829
hg18124829
hg17124829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988195, essv6988194, essv6979542, essv6979543, essv6979541
SamplesNA18566
Known GenesC7, MROH2B
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)esv35077
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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