A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9863646



Internal ID6488939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15468398..15487980hg38UCSC Ensembl
Innerchr1:15468548..15487830hg38UCSC Ensembl
Outerchr1:15468248..15488130hg38UCSC Ensembl
chr1:15794893..15814475hg19UCSC Ensembl
Innerchr1:15795043..15814325hg19UCSC Ensembl
Outerchr1:15794743..15814625hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3819583
hg1919583
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585312
Supporting Variants
SamplesNA18981
Known GenesCELA2A, CELA2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9863646
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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