A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588175



Internal ID6975598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:187670011..187810569hg38UCSC Ensembl
chr1:187639143..187779700hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38140559
hg19140558
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10218360, essv10218359, essv10218358, essv10218361
SamplesHG02339, HG03209, HG02479, HG02546
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588175
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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