A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585814



Internal ID6973334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40880589..40915352hg38UCSC Ensembl
Innerchr1:40880739..40915202hg38UCSC Ensembl
Outerchr1:40880439..40915502hg38UCSC Ensembl
chr1:41346261..41381024hg19UCSC Ensembl
Innerchr1:41346411..41380874hg19UCSC Ensembl
Outerchr1:41346111..41381174hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3834764
hg1934764
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9917046, essv9917045, essv9917034, essv9917038, essv9917036, essv9917037, essv9917041, essv9917042, essv9917040, essv9917039, essv9917047, essv9917043, essv9917035, essv9917044
SamplesNA12004, NA07357, HG01673, HG01709, HG01699, HG01162, HG01241, NA12144, HG00119, NA12873, HG02232, HG01395, NA20510, HG01516
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585814
Frequency
Sample Size2504
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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