A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725341



Internal ID10308977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:63270501..63271600hg38UCSC Ensembl
Outerchr3:63256177..63257276hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864663, essv6834376, essv6751025, essv6736409, essv6711140, essv6756905, essv6840519, essv6817246, essv6669875, essv6820697, essv6854098, essv6733850, essv6759462, essv6933900, essv6770097, essv6962460, essv6764535
SamplesSSM059, SSM027, SSM065, SSM087, SSM050, SSM042, SSM002, SSM057, SSM084, SSM021, SSM061, SSM089, SSM031, SSM078, SSM010, SSM049, SSM063
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)esv2725341
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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