A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6733255



Internal ID10142560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55517983..55518194hg38UCSC Ensembl
Outerchr19:56029350..56029561hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718974, esv2718976
Supporting Variants
SamplesSSM047
Known GenesSSC5D
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)essv6733255
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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