A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6695507



Internal ID9762290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:4701966..4702336hg38UCSC Ensembl
Outerchr12:4811132..4811502hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38371
hg19371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745450
Supporting Variants
SamplesSSM037
Known Genes
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)essv6695507
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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