A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674359



Internal ID9593778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:2983720..3011967hg38UCSC Ensembl
OuterchrX:2983683..3012017hg38UCSC Ensembl
InnerchrX:2901761..2930008hg19UCSC Ensembl
OuterchrX:2901724..2930058hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3828335
hg1928335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5472891
SamplesHG00369
Known GenesARSH
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674359
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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