A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5573948



Internal ID9347560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:80193117..80195223hg38UCSC Ensembl
OuterchrX:80192746..80195593hg38UCSC Ensembl
InnerchrX:79448616..79450722hg19UCSC Ensembl
OuterchrX:79448245..79451092hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg382848
hg192848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666335
Supporting Variants
SamplesNA18544
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5573948
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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