A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606678



Internal ID6993613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126424315..126543577hg38UCSC Ensembl
chr5:125760007..125879269hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38119263
hg19119263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12050693
SamplesNA20758
Known GenesALDH7A1, GRAMD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606678
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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