A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6931852



Internal ID9692783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32253940..32254471hg38UCSC Ensembl
Outerchr12:32406874..32407405hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38532
hg19532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745740, esv2745738
Supporting Variants
SamplesSSM020
Known GenesBICD1
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)essv6931852
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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