A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980388



Internal ID12631618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76139519..76154319hg38UCSC Ensembl
Innerchr5:75435344..75450144hg19UCSC Ensembl
Innerchr5:75471100..75485900hg18UCSC Ensembl
Innerchr5:75471100..75485900hg17UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3814801
hg1914801
hg1814801
hg1714801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34958
Supporting Variants
SamplesNA10830
Known GenesSV2C
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980388
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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