A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6781944



Internal ID9656107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49414509..49414973hg38UCSC Ensembl
Outerchr19:49917766..49918230hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38465
hg19465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718714
Supporting Variants
SamplesSSM008
Known GenesCCDC155
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)essv6781944
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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