A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717985



Internal ID9952276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4036089..4036540hg38UCSC Ensembl
Outerchr19:4036087..4036538hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv495e201
Supporting Variantsessv6967415, essv6852741, essv6674740, essv6950136, essv6852743, essv6839615, essv6913624, essv6788780, essv6682503, essv6828689, essv6946079, essv6710306, essv6788781, essv6666366, essv6692408, essv6824619, essv6776629, essv6874400, essv6703494, essv6713906
SamplesSSM036, SSM083, SSM027, SSM024, SSM079, SSM039, SSM042, SSM041, SSM023, SSM069, SSM029, SSM031, SSM086, SSM033, SSM066, SSM015, SSM080, SSM091
Known GenesPIAS4
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)esv2717985
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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