A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12030232



Internal ID2032048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116125329..116135554hg38UCSC Ensembl
chr5:115461026..115471251hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3810226
hg1910226
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606383
Supporting Variants
SamplesHG00530
Known GenesCOMMD10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12030232
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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