A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604882



Internal ID6991910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42828450..42958998hg38UCSC Ensembl
Innerchr5:42828600..42958848hg38UCSC Ensembl
Outerchr5:42828300..42959148hg38UCSC Ensembl
chr5:42828552..42959100hg19UCSC Ensembl
Innerchr5:42828702..42958950hg19UCSC Ensembl
Outerchr5:42828402..42959250hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38130549
hg19130549
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1097e214
Supporting Variantsessv11884228
SamplesNA12717
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604882
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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