A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720185



Internal ID9954481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:71079275..71185049hg38UCSC Ensembl
Outerchr2:71306405..71412179hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38105775
hg19105775
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6787253, essv6787265, essv6853717, essv6819131, essv6751464, essv6714567, essv6761930, essv6721166, essv6919573, essv6972932, essv6764380, essv6739100, essv6756764, essv6764379, essv6929430, essv6933655, essv6898858, essv6914249, essv6763041, essv6819120, essv6671676, essv6733700, essv6736226, essv6917760, essv6751453, essv6745175, essv6748026, essv6697754, essv6750842, essv6742393, essv6773751, essv6710898, essv6736225, essv6933656, essv6739101, essv6910390, essv6955301, essv6972931, essv6917761, essv6938010, essv6679492
SamplesSSM100, SSM059, SSM008, SSM087, SSM009, SSM050, SSM042, SSM057, SSM021, SSM029, SSM026, SSM017, SSM003, SSM001, SSM033, SSM066, SSM006, SSM020, SSM007, SSM015, SSM016, SSM053, SSM005, SSM022, SSM010, SSM055, SSM043, SSM052, SSM049, SSM056, SSM063
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)esv2720185
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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