A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6842353



Internal ID9661231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57499048..57499969hg38UCSC Ensembl
Outerchr19:58010416..58011337hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38922
hg19922
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719071, esv2719074, esv2719072
Supporting Variants
SamplesSSM010
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)essv6842353
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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