A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589407



Internal ID6629696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244455748..244458463hg38UCSC Ensembl
Innerchr1:244455748..244458463hg38UCSC Ensembl
Outerchr1:244455439..244458728hg38UCSC Ensembl
chr1:244619050..244621765hg19UCSC Ensembl
Innerchr1:244619050..244621765hg19UCSC Ensembl
Outerchr1:244618741..244622030hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg382716
hg192716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10360060, essv10360059, essv10360062, essv10360061
SamplesNA20532, HG01459, NA19657, HG01607
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589407
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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