A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9859804



Internal ID6485097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13480593..13483182hg38UCSC Ensembl
Innerchr1:13480604..13483172hg38UCSC Ensembl
Outerchr1:13480583..13483193hg38UCSC Ensembl
chr1:13807061..13809636hg19UCSC Ensembl
Innerchr1:13807072..13809626hg19UCSC Ensembl
Outerchr1:13807051..13809647hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg382590
hg192576
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585260
Supporting Variants
SamplesHG02090
Known GenesLRRC38
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9859804
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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