A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746476



Internal ID9980760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120733347..120733821hg38UCSC Ensembl
Outerchr12:121171150..121171624hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6741138, essv6970880
SamplesSSM028, SSM052
Known GenesACADS
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)esv2746476
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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