A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988641



Internal ID12628352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86026419..86258219hg38UCSC Ensembl
Innerchr2:86253542..86485342hg19UCSC Ensembl
Innerchr2:86107053..86338853hg18UCSC Ensembl
Innerchr2:86165200..86397000hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38231801
hg19231801
hg18231801
hg17231801
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)essv6988641
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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