A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662274



Internal ID9928379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1607817..1608962hg38UCSC Ensembl
chrX:1726710..1727855hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg381146
hg191146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6289585, essv5915889, essv6018790, essv6056082
SamplesHG00536, NA18530, NA18989, NA18612
Known GenesASMT
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662274
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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