A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12018590



Internal ID2668305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:110258714..110287094hg38UCSC Ensembl
Innerchr5:110258717..110287091hg38UCSC Ensembl
Outerchr5:110258711..110287097hg38UCSC Ensembl
chr5:109594415..109622795hg19UCSC Ensembl
Innerchr5:109594418..109622792hg19UCSC Ensembl
Outerchr5:109594412..109622798hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3828381
hg1928381
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606245
Supporting Variants
SamplesHG02364
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12018590
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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