A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6977189



Internal ID9734314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32253875..32253997hg38UCSC Ensembl
Outerchr12:32406809..32406931hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745736, esv2745734, esv2745738, esv2745739
Supporting Variants
SamplesSSM029
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)essv6977189
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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