A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725989



Internal ID10309625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:141248230..141249040hg38UCSC Ensembl
Outerchr3:140967072..140967882hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38811
hg19811
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6817341, essv6962561, essv6739373, essv6736457, essv6748236, essv6875187, essv6872202, essv6756951, essv6667205, essv6764581, essv6742605, essv6754354, essv6718739, essv6789803, essv6730215
SamplesSSM059, SSM008, SSM027, SSM050, SSM092, SSM047, SSM044, SSM078, SSM053, SSM091, SSM070, SSM052, SSM056, SSM030, SSM063
Known GenesACPL2
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)esv2725989
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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