A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718163



Internal ID9952454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:9969842..9970669hg38UCSC Ensembl
Outerchr19:10080518..10081345hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38828
hg19828
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6905803, essv6813976, essv6858713, essv6917084, essv6877421, essv6839626, essv6902206, essv6868372, essv6678845, essv6892072
SamplesSSM092, SSM013, SSM089, SSM016, SSM032, SSM083, SSM097, SSM012, SSM009, SSM087
Known GenesCOL5A3
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)esv2718163
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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