A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12136083



Internal ID6490605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:174743509..174788775hg38UCSC Ensembl
chr5:174170512..174215778hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3845267
hg1945267
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607637
Supporting Variants
SamplesNA20529
Known GenesMIR4634
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12136083
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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