A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662713



Internal ID9928818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:124653936..124655208hg38UCSC Ensembl
OuterchrX:124653779..124655361hg38UCSC Ensembl
InnerchrX:123787786..123789058hg19UCSC Ensembl
OuterchrX:123787629..123789211hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg381583
hg191583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6432176
SamplesHG00589
Known GenesTENM1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662713
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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