A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604818



Internal ID6645068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40505011..40512730hg38UCSC Ensembl
Innerchr5:40505042..40512699hg38UCSC Ensembl
Outerchr5:40504980..40512761hg38UCSC Ensembl
chr5:40505113..40512832hg19UCSC Ensembl
Innerchr5:40505144..40512801hg19UCSC Ensembl
Outerchr5:40505082..40512863hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg387720
hg197720
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11875558
SamplesHG02557
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604818
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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