A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6710375



Internal ID9775286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54109674..54110002hg38UCSC Ensembl
Outerchr19:54612981..54613385hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38329
hg19405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718853, esv2718812
Supporting Variants
SamplesSSM041
Known GenesTFPT
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)essv6710375
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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