A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728052



Internal ID9962364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:101090880..101091054hg38UCSC Ensembl
Outerchr4:102012037..102012211hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6683595, essv6910893, essv6962945
SamplesSSM027, SSM034, SSM015
Known GenesPPP3CA
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)esv2728052
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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