A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740789



Internal ID10294905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:14002323..14002764hg38UCSC Ensembl
Outerchr12:14155257..14155698hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38442
hg19442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv176e201
Supporting Variantsessv6673133
SamplesSSM031
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)esv2740789
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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