A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6815462



Internal ID10217397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:14002331..14002702hg38UCSC Ensembl
Outerchr12:14155265..14155636hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745580
Supporting Variants
SamplesSSM077
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)essv6815462
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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