A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6823648



Internal ID10224765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:53030031..53030276hg38UCSC Ensembl
Outerchr12:53423815..53424060hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745903, esv2745901
Supporting Variants
SamplesSSM079
Known GenesEIF4B
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)essv6823648
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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