A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718120



Internal ID10301756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8340076..8340401hg38UCSC Ensembl
Outerchr19:8404960..8405285hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6946091, essv6717801, essv6932920, essv6925330, essv6674759, essv6696666, essv6682511, essv6706991, essv6960950
SamplesSSM023, SSM018, SSM026, SSM031, SSM033, SSM040, SSM020, SSM037, SSM043
Known GenesKANK3
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)esv2718120
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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