A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6940386



Internal ID10048032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93073296..93073684hg38UCSC Ensembl
Outerchr12:93467072..93467460hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38389
hg19389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746209
Supporting Variants
SamplesSSM022
Known GenesLOC643339
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)essv6940386
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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