A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588685



Internal ID6976101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:208431880..208433940hg38UCSC Ensembl
Innerchr1:208431880..208433940hg38UCSC Ensembl
Outerchr1:208431632..208434209hg38UCSC Ensembl
chr1:208605225..208607285hg19UCSC Ensembl
Innerchr1:208605225..208607285hg19UCSC Ensembl
Outerchr1:208604977..208607554hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg382061
hg192061
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10280547
SamplesHG00671
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588685
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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