A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12062032



Internal ID2523266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:129684618..129688486hg38UCSC Ensembl
Innerchr5:129684638..129688467hg38UCSC Ensembl
Outerchr5:129684599..129688506hg38UCSC Ensembl
chr5:129020311..129024179hg19UCSC Ensembl
Innerchr5:129020331..129024160hg19UCSC Ensembl
Outerchr5:129020292..129024199hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg383869
hg193869
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606763
Supporting Variants
SamplesHG02236
Known GenesADAMTS19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12062032
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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