A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606769



Internal ID6993704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:130040796..130042334hg38UCSC Ensembl
Innerchr5:130040804..130042327hg38UCSC Ensembl
Outerchr5:130040789..130042342hg38UCSC Ensembl
chr5:129376489..129378027hg19UCSC Ensembl
Innerchr5:129376497..129378020hg19UCSC Ensembl
Outerchr5:129376482..129378035hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg381539
hg191539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12062114
SamplesHG00383
Known GenesCHSY3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606769
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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