A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588902



Internal ID6976318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220435517..220445232hg38UCSC Ensembl
chr1:220608859..220618574hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg389716
hg199716
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10298920, essv10298921
SamplesHG01871, HG02968
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588902
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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