A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12042908



Internal ID2724587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122852505..122855233hg38UCSC Ensembl
Innerchr5:122852538..122855201hg38UCSC Ensembl
Outerchr5:122852473..122855266hg38UCSC Ensembl
chr5:122188200..122190928hg19UCSC Ensembl
Innerchr5:122188233..122190896hg19UCSC Ensembl
Outerchr5:122188168..122190961hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg382729
hg192729
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606594
Supporting Variants
SamplesHG02398
Known GenesSNX24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12042908
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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