A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664240



Internal ID2897327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:643478..643889hg38UCSC Ensembl
chrX:604213..604624hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38412
hg19412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6487603, essv5714327, essv5692272, essv6309922, essv5488332, essv5930898, essv6213847
SamplesNA19435, NA18868, NA19375, NA19716, NA19720, NA19328, NA18519
Known GenesSHOX
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664240
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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