A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983238



Internal ID12628344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86026458..86272279hg38UCSC Ensembl
Innerchr2:86253581..86499402hg19UCSC Ensembl
Innerchr2:86107092..86352913hg18UCSC Ensembl
Innerchr2:86165239..86411060hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38245822
hg19245822
hg18245822
hg17245822
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983238
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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