A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12122283



Internal ID3476932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:163059478..163089274hg38UCSC Ensembl
Innerchr5:163059478..163089274hg38UCSC Ensembl
Outerchr5:163058978..163089774hg38UCSC Ensembl
chr5:162486484..162516280hg19UCSC Ensembl
Innerchr5:162486484..162516280hg19UCSC Ensembl
Outerchr5:162485984..162516780hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3829797
hg1929797
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607445
Supporting Variants
SamplesHG03091
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12122283
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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