A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605323



Internal ID6992346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:66904481..66905911hg38UCSC Ensembl
Innerchr5:66904495..66905898hg38UCSC Ensembl
Outerchr5:66904468..66905925hg38UCSC Ensembl
chr5:66200309..66201739hg19UCSC Ensembl
Innerchr5:66200323..66201726hg19UCSC Ensembl
Outerchr5:66200296..66201753hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg381431
hg191431
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11936747
SamplesHG03446
Known GenesMAST4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605323
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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