A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6703556



Internal ID10116652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:35511312..35511702hg38UCSC Ensembl
Outerchr19:36002214..36002604hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718494, esv2718495
Supporting Variants
SamplesSSM039
Known GenesDMKN
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)essv6703556
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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