A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721372



Internal ID10305008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:204320131..204321164hg38UCSC Ensembl
Outerchr2:205184854..205185887hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381034
hg191034
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6700104, essv6752520, essv6955514, essv6788254, essv6832999, essv6753857, essv6847733, essv6933778, essv6853915, essv6750935, essv6669702, essv6962276, essv6973180, essv6736328, essv6745269, essv6739213
SamplesSSM008, SSM027, SSM087, SSM039, SSM009, SSM050, SSM057, SSM058, SSM021, SSM029, SSM026, SSM031, SSM086, SSM082, SSM055, SSM052
Known Genes
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)esv2721372
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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