A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668986



Internal ID9588405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:151972537..151972928hg38UCSC Ensembl
chrX:151141009..151141400hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6597426, essv5551451, essv6502777, essv5498065
SamplesNA18502, NA19355, NA19434, NA19444
Known GenesGABRE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668986
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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