A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983239



Internal ID12628347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86055837..86278330hg38UCSC Ensembl
Innerchr2:86282960..86505453hg19UCSC Ensembl
Innerchr2:86136471..86358964hg18UCSC Ensembl
Innerchr2:86194618..86417111hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38222494
hg19222494
hg18222494
hg17222494
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)essv6983239
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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