A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6710898



Internal ID9776861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:71079286..71179664hg38UCSC Ensembl
Outerchr2:71306416..71406794hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38100379
hg19100379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720185
Supporting Variants
SamplesSSM042
Known GenesMCEE, MPHOSPH10
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)essv6710898
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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