A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10113675



Internal ID115491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145649153..145751059hg38UCSC Ensembl
chr1:145684026..145785911hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38101907
hg19101886
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587421
Supporting Variants
SamplesHG00698
Known GenesCD160, GPR89A, LOC100288142, NBPF10, PDZK1, RNF115
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10113675
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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