A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606923



Internal ID6647165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138400313..138409694hg38UCSC Ensembl
chr5:137736002..137745383hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg389382
hg199382
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1140e214
Supporting Variantsessv12075837
SamplesHG00109
Known GenesKDM3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606923
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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