A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745378



Internal ID9979662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1079232..1079635hg38UCSC Ensembl
Outerchr12:1188398..1188801hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38404
hg19404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6749641, essv6743989
SamplesSSM053, SSM056
Known GenesERC1
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)esv2745378
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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