A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586920



Internal ID6974348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:99246274..99253651hg38UCSC Ensembl
chr1:99711830..99719207hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg387378
hg197378
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10028027, essv10028026
SamplesHG00183, HG02771
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586920
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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