A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585593



Internal ID6973114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28783904..28787245hg38UCSC Ensembl
Innerchr1:28783904..28787245hg38UCSC Ensembl
Outerchr1:28783404..28787745hg38UCSC Ensembl
chr1:29110416..29113757hg19UCSC Ensembl
Innerchr1:29110416..29113757hg19UCSC Ensembl
Outerchr1:29109916..29114257hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg383342
hg193342
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9894798
SamplesNA19152
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585593
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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