A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745612



Internal ID9979896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:18369506..18369794hg38UCSC Ensembl
Outerchr12:18522440..18522728hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6687431, essv6865576
SamplesSSM005, SSM011
Known GenesPIK3C2G
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)esv2745612
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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