A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606245



Internal ID6993181
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12018589, essv12018590
SamplesHG02364, HG01785
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606245
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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