A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34707



Internal ID12990743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76133190..76154319hg38UCSC Ensembl
Innerchr5:75429015..75450144hg19UCSC Ensembl
Innerchr5:75464771..75485900hg18UCSC Ensembl
Innerchr5:75464771..75485900hg17UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3821130
hg1921130
hg1821130
hg1721130
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978708, essv6978709
SamplesNA12154
Known GenesSV2C
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)esv34707
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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