A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6929430



Internal ID9694957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:71086051..71185048hg38UCSC Ensembl
Outerchr2:71313181..71412178hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3898998
hg1998998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720185
Supporting Variants
SamplesSSM020
Known GenesMCEE, MPHOSPH10, PAIP2B
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6929430
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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