A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717815



Internal ID9952106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:988772..989511hg38UCSC Ensembl
Outerchr19:988772..989511hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38740
hg19740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6868350, essv6888750, essv6843470, essv6717779, essv6696644, essv6852724, essv6713894, essv6947163, essv6780866, essv6820812, essv6666341
SamplesSSM008, SSM042, SSM084, SSM029, SSM096, SSM089, SSM003, SSM086, SSM078, SSM037, SSM043
Known GenesWDR18
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)esv2717815
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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