A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6970868



Internal ID10074386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:109194419..109194589hg38UCSC Ensembl
Outerchr12:109632224..109632394hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746348
Supporting Variants
SamplesSSM028
Known GenesACACB
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)essv6970868
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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