A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606334



Internal ID6993270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114139825..114177263hg38UCSC Ensembl
Innerchr5:114139888..114177200hg38UCSC Ensembl
Outerchr5:114139762..114177326hg38UCSC Ensembl
chr5:113475522..113512960hg19UCSC Ensembl
Innerchr5:113475585..113512897hg19UCSC Ensembl
Outerchr5:113475459..113513023hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3837439
hg1937439
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1128e214
Supporting Variantsessv12023705, essv12023706, essv12023707, essv12023708
SamplesHG01351, NA19720, HG02260, HG01251
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606334
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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