A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6714567



Internal ID9779905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:71079289..71179656hg38UCSC Ensembl
Outerchr2:71306419..71406786hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38100368
hg19100368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720185
Supporting Variants
SamplesSSM043
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)essv6714567
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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