A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664341



Internal ID9930446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47469750..47476233hg38UCSC Ensembl
chrX:47329149..47335632hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg386484
hg196484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6188314, essv5632381, essv5875420, essv5883878, essv5525717
SamplesNA11830, HG00334, NA20505, HG00278, HG00312
Known GenesZNF41
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664341
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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