A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6756297



Internal ID10163245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6709950..6710520hg38UCSC Ensembl
Outerchr19:6709961..6710531hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38571
hg19571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718069
Supporting Variants
SamplesSSM058
Known GenesC3
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)essv6756297
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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