A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746047



Internal ID9980331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:71956213..71956803hg38UCSC Ensembl
Outerchr12:72349993..72350583hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38591
hg19591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977252
SamplesSSM029
Known GenesTPH2
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)esv2746047
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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