A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6666400



Internal ID9990469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12389714..12429522hg38UCSC Ensembl
Outerchr19:12500528..12540336hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3839809
hg1939809
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718194, esv2718192
Supporting Variants
SamplesSSM004
Known GenesZNF799
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)essv6666400
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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