A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588992



Internal ID6629283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225469902..225499153hg38UCSC Ensembl
chr1:225657604..225686855hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3829252
hg1929252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10308256, essv10308248, essv10308251, essv10308252, essv10308245, essv10308247, essv10308250, essv10308254, essv10308243, essv10308249, essv10308255, essv10308246, essv10308253, essv10308244
SamplesHG00442, NA18621, HG00559, HG00599, NA18635, HG02190, HG02409, HG01595, HG00556, HG01810, HG00619, NA18555, NA18564, HG00580
Known GenesENAH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588992
Frequency
Sample Size2504
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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