A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585970



Internal ID6626284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48459872..48603418hg38UCSC Ensembl
Innerchr1:48459897..48603393hg38UCSC Ensembl
Outerchr1:48459847..48603443hg38UCSC Ensembl
chr1:48925544..49069090hg19UCSC Ensembl
Innerchr1:48925569..49069065hg19UCSC Ensembl
Outerchr1:48925519..49069115hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38143547
hg19143547
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9926750
SamplesHG04015
Known GenesAGBL4, SPATA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585970
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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