A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6839666



Internal ID9892684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:35350765..35363313hg38UCSC Ensembl
Outerchr19:35841668..35854215hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3812549
hg1912548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718493
Supporting Variants
SamplesSSM083
Known GenesFFAR1, FFAR3
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)essv6839666
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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