A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983240



Internal ID12628348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86078019..86278319hg38UCSC Ensembl
Innerchr2:86305142..86505442hg19UCSC Ensembl
Innerchr2:86158653..86358953hg18UCSC Ensembl
Innerchr2:86216800..86417100hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38200301
hg19200301
hg18200301
hg17200301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751903
Supporting Variants
SamplesBEC_558
Known GenesIMMT, MIR4779, MRPL35, POLR1A, PTCD3, REEP1, SNORD94
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983240
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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