A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746169



Internal ID9980453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:88010162..88010713hg38UCSC Ensembl
Outerchr12:88403939..88404490hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38552
hg19552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6737934, essv6912651, essv6851262
SamplesSSM050, SSM086, SSM015
Known GenesC12orf50
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)esv2746169
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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