A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745904



Internal ID9980188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:53270369..53270773hg38UCSC Ensembl
Outerchr12:53664153..53664557hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6970835, essv6695566, essv6673181
SamplesSSM031, SSM028, SSM037
Known GenesESPL1
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)esv2745904
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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