A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589232



Internal ID6976560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237185558..237197676hg38UCSC Ensembl
Innerchr1:237185558..237197676hg38UCSC Ensembl
Outerchr1:237185058..237198176hg38UCSC Ensembl
chr1:237348858..237360976hg19UCSC Ensembl
Innerchr1:237348858..237360976hg19UCSC Ensembl
Outerchr1:237348358..237361476hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3812119
hg1912119
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10338756
SamplesHG01945
Known GenesRYR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589232
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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