A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589571



Internal ID6976900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248712001..248744759hg38UCSC Ensembl
chr1:248875302..248908060hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3832759
hg1932759
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10382271, essv10382272, essv10382270, essv10382273, essv10382274, essv10382275
SamplesHG00189, HG02298, HG00178, HG00332, HG02979, HG00285
Known GenesLYPD8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589571
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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