A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746412



Internal ID10327382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:114635479..114635673hg38UCSC Ensembl
Outerchr12:115073284..115073478hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920257, essv6851303, essv6939629, essv6716863
SamplesSSM017, SSM003, SSM086, SSM043
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)esv2746412
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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