A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745749



Internal ID9980033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32348292..32348928hg38UCSC Ensembl
Outerchr12:32501226..32501862hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38637
hg19637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6677820, essv6977190, essv6791862, essv6772087, essv6796035
SamplesSSM008, SSM071, SSM029, SSM032, SSM070
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)esv2745749
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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