A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717750



Internal ID9952041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:605188..608416hg38UCSC Ensembl
Outerchr19:605188..608416hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383229
hg193229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv483e201
Supporting Variantsessv6692398, essv6729273, essv6946069, essv6801258, essv6971858, essv6863539, essv6810102, essv6954290, essv6761623, essv6804186, essv6668690
SamplesSSM036, SSM075, SSM046, SSM073, SSM088, SSM023, SSM028, SSM061, SSM072, SSM025, SSM030
Known GenesHCN2
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)esv2717750
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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