A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6761715



Internal ID9822139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57493527..57506491hg38UCSC Ensembl
Outerchr19:58004895..58017859hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3812965
hg1912965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719071
Supporting Variants
SamplesSSM061
Known GenesZNF419, ZNF773
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)essv6761715
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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