A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585450



Internal ID6625768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21567908..21569871hg38UCSC Ensembl
Innerchr1:21567908..21569871hg38UCSC Ensembl
Outerchr1:21567629..21570113hg38UCSC Ensembl
chr1:21894401..21896364hg19UCSC Ensembl
Innerchr1:21894401..21896364hg19UCSC Ensembl
Outerchr1:21894122..21896606hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381964
hg191964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9888822
SamplesHG00566
Known GenesALPL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585450
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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