A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741090



Internal ID9975421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32253783..32254940hg38UCSC Ensembl
Outerchr12:32406717..32407874hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381158
hg191158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6711143
SamplesSSM006
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)esv2741090
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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