A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12050695



Internal ID2052511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126475605..126628219hg38UCSC Ensembl
chr5:125811297..125963911hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38152615
hg19152615
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606680
Supporting Variants
SamplesNA20758
Known GenesALDH7A1, GRAMD3, PHAX
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12050695
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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