A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607135



Internal ID6994070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149063536..149066593hg38UCSC Ensembl
Innerchr5:149063536..149066593hg38UCSC Ensembl
Outerchr5:149063337..149066814hg38UCSC Ensembl
chr5:148443099..148446156hg19UCSC Ensembl
Innerchr5:148443099..148446156hg19UCSC Ensembl
Outerchr5:148442900..148446377hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg383058
hg193058
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12094348, essv12094349
SamplesHG02334, HG02772
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607135
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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