A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6936125



Internal ID10045140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:22699532..22699966hg38UCSC Ensembl
Outerchr12:22852466..22852900hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38435
hg19435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745631
Supporting Variants
SamplesSSM021
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)essv6936125
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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