A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718156



Internal ID9952447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:9578710..9669102hg38UCSC Ensembl
Outerchr19:9689386..9779778hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3890393
hg1990393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733145, essv6846694, essv6797083, essv6753269
SamplesSSM071, SSM057, SSM085, SSM047
Known GenesC19orf82, ZNF121, ZNF561, ZNF562
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)esv2718156
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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