A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11903901



Internal ID1322335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53727957..53735529hg38UCSC Ensembl
Innerchr5:53727957..53735529hg38UCSC Ensembl
Outerchr5:53727457..53736029hg38UCSC Ensembl
chr5:53023787..53031359hg19UCSC Ensembl
Innerchr5:53023787..53031359hg19UCSC Ensembl
Outerchr5:53023287..53031859hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg387573
hg197573
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605075
Supporting Variants
SamplesHG01168
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11903901
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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