A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10113683



Internal ID115499
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587422
Supporting Variants
SamplesNA18993
Known GenesCD160, GPR89A, LOC100288142, NBPF10, PDZK1, RNF115
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10113683
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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