A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5563631



Internal ID9654882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:100572528..100574087hg38UCSC Ensembl
Outerchr1:100572371..100574240hg38UCSC Ensembl
Innerchr1:101038084..101039643hg19UCSC Ensembl
Outerchr1:101037927..101039796hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg381870
hg191870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2664470
Supporting Variants
SamplesNA19384
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5563631
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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