A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6843595



Internal ID9896031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53753839..53758121hg38UCSC Ensembl
Outerchr19:54257093..54261375hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg384283
hg194283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718812, esv2718841
Supporting Variants
SamplesSSM084
Known GenesMIR516A1, MIR527
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)essv6843595
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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