A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661016



Internal ID9927121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:63824206..63831135hg38UCSC Ensembl
chrX:63044086..63051015hg19UCSC Ensembl
CytobandXq11.2
Allele length
AssemblyAllele length
hg386930
hg196930
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5417848, essv6070098, essv5947132, essv5913491, essv5844936, essv5806274, essv5955270, essv6539512, essv6289823, essv5983297, essv5749059
SamplesHG01188, NA19372, NA19235, NA19462, NA18523, HG00734, NA19470, NA19438, NA19468, NA19102, NA19711
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661016
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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