A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11983472



Internal ID2255034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:96506386..96581989hg38UCSC Ensembl
Innerchr5:96506418..96581958hg38UCSC Ensembl
Outerchr5:96506355..96582021hg38UCSC Ensembl
chr5:95842090..95917693hg19UCSC Ensembl
Innerchr5:95842122..95917662hg19UCSC Ensembl
Outerchr5:95842059..95917725hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3875604
hg1975604
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605858
Supporting Variants
SamplesHG02017
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11983472
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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