A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751903



Internal ID12638769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86026419..86278330hg38UCSC Ensembl
Innerchr2:86253542..86505453hg19UCSC Ensembl
Innerchr2:86107053..86358964hg18UCSC Ensembl
Innerchr2:86165200..86417111hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38251912
hg19251912
hg18251912
hg17251912
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983240, essv6983239, essv6986378, essv6983238, essv6988641
SamplesBEC_558
Known GenesIMMT, MIR4779, MRPL35, POLR1A, PTCD3, REEP1, SNORD94
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751903
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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