A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6735181



Internal ID10145326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:14002199..14002683hg38UCSC Ensembl
Outerchr12:14155133..14155617hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38485
hg19485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745579
Supporting Variants
SamplesSSM049
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)essv6735181
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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