A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660486



Internal ID9926591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:146759137..146759251hg38UCSC Ensembl
chrX:145840655..145840769hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5575131, essv6220413, essv6035188, essv6385937, essv6597756, essv5407500, essv5495341, essv6157882
SamplesNA19138, NA19404, NA19383, NA19371, NA19428, HG01108, NA19360, NA19129
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660486
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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