A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6828793



Internal ID9882710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57499305..57499419hg38UCSC Ensembl
Outerchr19:58010673..58010787hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719071, esv2719077, esv2719074, esv2719076, esv2719072, esv2719075
Supporting Variants
SamplesSSM080
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)essv6828793
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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