A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5478765



Internal ID8456168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:73952967..73956896hg38UCSC Ensembl
chrX:73172802..73176731hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg383930
hg193930
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2656958
Supporting Variants
SamplesNA19755
Known GenesJPX
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5478765
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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