A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3371651



Internal ID15218627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:11610246..11610276hg38UCSC Ensembl
InnerchrX:11610255..11610264hg38UCSC Ensembl
OuterchrX:11610228..11610294hg38UCSC Ensembl
chrX:11628366..11628396hg19UCSC Ensembl
InnerchrX:11628375..11628384hg19UCSC Ensembl
OuterchrX:11628348..11628414hg19UCSC Ensembl
chrX:11538287..11538317hg18UCSC Ensembl
InnerchrX:11538305..11538296hg18UCSC Ensembl
OuterchrX:11538269..11538335hg18UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38505
hg19505
hg18505
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8977933, essv8977934, essv8977935
SamplesNA18508, NA18870, NA19257
Known GenesARHGAP6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3371651
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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