A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746009



Internal ID10326979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:67977929..67978725hg38UCSC Ensembl
Outerchr12:68371709..68372505hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38797
hg19797
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6706246, essv6737916, essv6867202, essv6775729, essv6779492, essv6936166, essv6977242
SamplesSSM050, SSM021, SSM029, SSM089, SSM067, SSM066, SSM040
Known Genes
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)esv2746009
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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