A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6941513



Internal ID9702891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57499232..57499957hg38UCSC Ensembl
Outerchr19:58010600..58011325hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38726
hg19726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719071, esv2719074, esv2719072
Supporting Variants
SamplesSSM022
Known GenesZNF773
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)essv6941513
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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