A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719038



Internal ID9953330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:56445775..56446206hg38UCSC Ensembl
Outerchr19:56957144..56957575hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6782465
SamplesSSM008
Known GenesZNF667
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)esv2719038
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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