A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718802



Internal ID9953094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52818667..52857385hg38UCSC Ensembl
Outerchr19:53321920..53360638hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3838719
hg1938719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv529e201
Supporting Variantsessv6832329, essv6814832, essv6828762, essv6950228, essv6744759, essv6933005, essv6746499, essv6692501, essv6954411, essv6843584, essv6820931
SamplesSSM036, SSM024, SSM009, SSM084, SSM081, SSM020, SSM007, SSM078, SSM053, SSM080, SSM025
Known GenesZNF28, ZNF468
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)esv2718802
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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