A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6852761



Internal ID10250967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12380318..12391216hg38UCSC Ensembl
Outerchr19:12491132..12502030hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3810899
hg1910899
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718193, esv2718192
Supporting Variants
SamplesSSM086
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)essv6852761
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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