A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6858837



Internal ID9909751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54693192..54693303hg38UCSC Ensembl
Outerchr19:55204957..55205068hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718909, esv2718907, esv2718872
Supporting Variants
SamplesSSM087
Known Genes
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)essv6858837
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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