A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978025



Internal ID12978490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:743432..822008hg38UCSC Ensembl
Innerchr5:743547..822123hg19UCSC Ensembl
Innerchr5:796547..875123hg18UCSC Ensembl
Innerchr5:796547..875123hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3878577
hg1978577
hg1878577
hg1778577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34475
Supporting Variants
SamplesNA10857
Known GenesZDHHC11
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978025
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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