A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6920184



Internal ID9683756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27558324..27558979hg38UCSC Ensembl
Outerchr12:27711257..27711912hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38656
hg19656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745664, esv2745669
Supporting Variants
SamplesSSM017
Known GenesPPFIBP1
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)essv6920184
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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