A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6867300



Internal ID10264051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132758967..132759174hg38UCSC Ensembl
Outerchr12:133335553..133335760hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747037, esv2747038
Supporting Variants
SamplesSSM089
Known GenesANKLE2
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)essv6867300
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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