A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11853428



Internal ID2066716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:30691309..30708234hg38UCSC Ensembl
Innerchr5:30691309..30708234hg38UCSC Ensembl
Outerchr5:30690809..30708734hg38UCSC Ensembl
chr5:30691416..30708341hg19UCSC Ensembl
Innerchr5:30691416..30708341hg19UCSC Ensembl
Outerchr5:30690916..30708841hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3816926
hg1916926
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604562
Supporting Variants
SamplesHG01882
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11853428
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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