A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12134020



Internal ID2135836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172660394..172725776hg38UCSC Ensembl
chr5:172087397..172152779hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3865383
hg1965383
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607596
Supporting Variants
SamplesHG03241
Known GenesNEURL1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12134020
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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