A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724929



Internal ID9959231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11942264..11942443hg38UCSC Ensembl
Outerchr3:11983738..11983917hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847849, essv6766913
SamplesSSM064, SSM086
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)esv2724929
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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