A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586700



Internal ID6974218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86545389..86602109hg38UCSC Ensembl
chr1:87011072..87067792hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3856721
hg1956721
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10008242, essv10008245, essv10008246, essv10008244, essv10008243
SamplesHG02278, HG02090, HG01979, HG01948, HG01933
Known GenesCLCA4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586700
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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