A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718803



Internal ID9953095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52849920..52916919hg38UCSC Ensembl
Outerchr19:53353173..53420172hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3867000
hg1967000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6753339, essv6766386, essv6913722
SamplesSSM057, SSM063, SSM015
Known GenesZNF320, ZNF468
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)esv2718803
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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