A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605315



Internal ID6992338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:66661836..66745253hg38UCSC Ensembl
Innerchr5:66661877..66745213hg38UCSC Ensembl
Outerchr5:66661796..66745294hg38UCSC Ensembl
chr5:65957664..66041081hg19UCSC Ensembl
Innerchr5:65957705..66041041hg19UCSC Ensembl
Outerchr5:65957624..66041122hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3883418
hg1983418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11936645
SamplesNA19726
Known GenesMAST4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605315
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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