A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587422



Internal ID6627726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145649153..145751059hg38UCSC Ensembl
chr1:145684026..145785911hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38101907
hg19101886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10113685, essv10113682, essv10113683, essv10113679, essv10113681, essv10113684, essv10113680
SamplesHG01356, HG01303, HG02589, NA18993, NA20287, HG02390, NA21095
Known GenesCD160, GPR89A, LOC100288142, NBPF10, PDZK1, RNF115
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587422
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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