A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6801342



Internal ID9856636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48365173..48365637hg38UCSC Ensembl
Outerchr19:48868430..48868894hg19UCSC 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 Variantsesv2718675
Supporting Variants
SamplesSSM072
Known GenesSYNGR4
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)essv6801342
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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