A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12062114



Internal ID810359
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606769
Supporting Variants
SamplesHG00383
Known GenesCHSY3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12062114
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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