A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605616



Internal ID6992554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:82459616..82465516hg38UCSC Ensembl
Innerchr5:82459616..82465516hg38UCSC Ensembl
Outerchr5:82459116..82466016hg38UCSC Ensembl
chr5:81755435..81761335hg19UCSC Ensembl
Innerchr5:81755435..81761335hg19UCSC Ensembl
Outerchr5:81754935..81761835hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg385901
hg195901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11957277, essv11957283, essv11957281, essv11957280, essv11957279, essv11957278, essv11957282
SamplesHG03926, HG03640, HG02733, NA20904, HG02697, HG04180, HG03829
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605616
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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