A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718663



Internal ID10302299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47447451..47447797hg38UCSC Ensembl
Outerchr19:47950708..47951054hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784682
SamplesSSM068
Known GenesSLC8A2
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)esv2718663
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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