A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10080958



Internal ID82774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115713084..115837709hg38UCSC Ensembl
chr1:116255705..116380330hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38124626
hg19124626
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587292
Supporting Variants
SamplesNA18523
Known GenesCASQ2, NHLH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10080958
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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