A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589409



Internal ID6976737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244516598..244517943hg38UCSC Ensembl
Innerchr1:244516603..244517938hg38UCSC Ensembl
Outerchr1:244516593..244517948hg38UCSC Ensembl
chr1:244679900..244681245hg19UCSC Ensembl
Innerchr1:244679905..244681240hg19UCSC Ensembl
Outerchr1:244679895..244681250hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381346
hg191346
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10360077, essv10360071, essv10360070, essv10360079, essv10360066, essv10360067, essv10360064, essv10360073, essv10360074, essv10360081, essv10360083, essv10360065, essv10360084, essv10360075, essv10360068, essv10360080, essv10360078, essv10360072, essv10360069, essv10360082, essv10360076
SamplesHG03300, HG03199, HG03091, NA19457, HG02505, HG01308, HG02715, HG02449, NA19043, HG03027, NA18856, NA19452, NA19318, HG02611, HG03127, NA19428, NA20348, HG02970, NA19030, HG03265, HG03271
Known GenesC1orf101
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589409
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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