A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746171



Internal ID9980455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:88010437..88010488hg38UCSC Ensembl
Outerchr12:88404214..88404265hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6851262
SamplesSSM086
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)esv2746171
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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