A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586306



Internal ID6973827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67470480..67474395hg38UCSC Ensembl
chr1:67936163..67940078hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg383916
hg193916
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9958932, essv9958933
SamplesHG03458, HG03084
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586306
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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