A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588702



Internal ID6976118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209497347..209511240hg38UCSC Ensembl
Innerchr1:209497386..209511201hg38UCSC Ensembl
Outerchr1:209497308..209511279hg38UCSC Ensembl
chr1:209670692..209684585hg19UCSC Ensembl
Innerchr1:209670731..209684546hg19UCSC Ensembl
Outerchr1:209670653..209684624hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3813894
hg1913894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10281527
SamplesNA20804
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588702
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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