A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605762



Internal ID6992699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:90416022..90423525hg38UCSC Ensembl
Innerchr5:90416172..90423375hg38UCSC Ensembl
Outerchr5:90415872..90423675hg38UCSC Ensembl
chr5:89711839..89719342hg19UCSC Ensembl
Innerchr5:89711989..89719192hg19UCSC Ensembl
Outerchr5:89711689..89719492hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg387504
hg197504
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11976348
SamplesHG03073
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605762
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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