A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675942



Internal ID9942047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12472895..12474199hg38UCSC Ensembl
chrX:12491014..12492318hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg381305
hg191305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6074722, essv5967571, essv6218338, essv6340731, essv5843183, essv5956176, essv6245786, essv5400213, essv5490888, essv6581000, essv5929918, essv6366099, essv5969430, essv6134701, essv5416848, essv5746174
SamplesNA19466, NA19377, NA19107, NA19446, HG01366, NA19457, NA19917, NA19901, NA19445, NA19921, NA19453, NA19712, NA19467, NA19398, NA19713, NA19463
Known GenesFRMPD4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675942
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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