A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12026243



Internal ID2028059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115181245..115204152hg38UCSC Ensembl
chr5:114516942..114539849hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3822908
hg1922908
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606359
Supporting Variants
SamplesHG03971
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12026243
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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