A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719014



Internal ID9953306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:56098565..56098798hg38UCSC Ensembl
Outerchr19:56609934..56610167hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv544e201
Supporting Variantsessv6863694, essv6883113
SamplesSSM088, SSM094
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)esv2719014
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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