A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718405



Internal ID10302041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29129045..29129218hg38UCSC Ensembl
Outerchr19:29619952..29620125hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6932958, essv6703545
SamplesSSM039, SSM020
Known Genes
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)esv2718405
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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