A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11936747



Internal ID3800509
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605323
Supporting Variants
SamplesHG03446
Known GenesMAST4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11936747
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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