A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9860510



Internal ID6485803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13913847..13928580hg38UCSC Ensembl
chr1:14240342..14255075hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3814734
hg1914734
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585268
Supporting Variants
SamplesHG02395
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9860510
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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