A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657687



Internal ID9923792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:53451211..53464671hg38UCSC Ensembl
chrX:53478159..53491616hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg3813461
hg1913458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5949841, essv6319714, essv6152994, essv6254846, essv6062388, essv5910584, essv6178743
SamplesNA19700, HG01052, NA18498, NA20291, NA18908, NA19726, NA19711
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657687
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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