A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585853



Internal ID6973373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42804582..42805847hg38UCSC Ensembl
Innerchr1:42804584..42805846hg38UCSC Ensembl
Outerchr1:42804581..42805849hg38UCSC Ensembl
chr1:43270253..43271518hg19UCSC Ensembl
Innerchr1:43270255..43271517hg19UCSC Ensembl
Outerchr1:43270252..43271520hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381266
hg191266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9920858, essv9920859, essv9920856, essv9920855, essv9920857
SamplesHG02614, HG02702, HG02811, HG02620, HG03063
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585853
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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