A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6936149



Internal ID9698485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49111438..49112591hg38UCSC Ensembl
Outerchr12:49505221..49506374hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381154
hg191154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745860
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)essv6936149
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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