A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586681



Internal ID6626991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85445227..85449326hg38UCSC Ensembl
chr1:85910910..85915009hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10004513, essv10004514
SamplesNA11995, HG02837
Known GenesDDAH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586681
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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