A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589344



Internal ID6629633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241569172..241580860hg38UCSC Ensembl
Innerchr1:241569210..241580822hg38UCSC Ensembl
Outerchr1:241569134..241580898hg38UCSC Ensembl
chr1:241732472..241744162hg19UCSC Ensembl
Innerchr1:241732510..241744124hg19UCSC Ensembl
Outerchr1:241732434..241744200hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3811689
hg1911691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10355398, essv10355396, essv10355399, essv10355395, essv10355393, essv10355397, essv10355394, essv10355400
SamplesHG00182, NA20511, HG01461, HG00338, HG01628, HG03595, HG00103, HG00285
Known GenesKMO
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589344
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer