A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34958



Internal ID12644308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76133190..76179096hg38UCSC Ensembl
Innerchr5:75429015..75474921hg19UCSC Ensembl
Innerchr5:75464771..75510677hg18UCSC Ensembl
Innerchr5:75464771..75510677hg17UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3845907
hg1945907
hg1845907
hg1745907
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980388, essv6980387
SamplesNA10830
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)esv34958
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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