A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6846789



Internal ID9898906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:56098236..56099027hg38UCSC Ensembl
Outerchr19:56609605..56610396hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38792
hg19792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719010
Supporting Variants
SamplesSSM085
Known GenesZNF787
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)essv6846789
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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