A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978708



Internal ID12978998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76133190..76154302hg38UCSC Ensembl
Innerchr5:75429015..75450127hg19UCSC Ensembl
Innerchr5:75464771..75485883hg18UCSC Ensembl
Innerchr5:75464771..75485883hg17UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3821113
hg1921113
hg1821113
hg1721113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34707
Supporting Variants
SamplesNA12154
Known GenesSV2C
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978708
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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