A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718536



Internal ID10302172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38743121..38743964hg38UCSC Ensembl
Outerchr19:39233761..39234604hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38844
hg19844
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6946145, essv6666476, essv6814521, essv6707040, essv6947851, essv6967503, essv6863623, essv6868421, essv6937341, essv6678881, essv6961020, essv6971948, essv6689075
SamplesSSM027, SSM009, SSM088, SSM023, SSM028, SSM021, SSM029, SSM026, SSM089, SSM035, SSM032, SSM003, SSM040
Known GenesCAPN12
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)esv2718536
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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