A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745744



Internal ID9980028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32289859..32290417hg38UCSC Ensembl
Outerchr12:32442793..32443351hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38559
hg19559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv185e201
Supporting Variantsessv6737894, essv6851185, essv6741074, essv6867167, essv6765769, essv6772055, essv6876669, essv6819698, essv6687489, essv6862388
SamplesSSM065, SSM050, SSM088, SSM092, SSM089, SSM086, SSM078, SSM005, SSM052, SSM063
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)esv2745744
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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