A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603978



Internal ID6991008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9573383..9576311hg38UCSC Ensembl
Innerchr5:9573411..9576284hg38UCSC Ensembl
Outerchr5:9573356..9576339hg38UCSC Ensembl
chr5:9573495..9576423hg19UCSC Ensembl
Innerchr5:9573523..9576396hg19UCSC Ensembl
Outerchr5:9573468..9576451hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg382929
hg192929
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11807250, essv11807247, essv11807249, essv11807246, essv11807248, essv11807251
SamplesNA20864, HG03718, NA20885, HG03928, HG03598, HG04056
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603978
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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