A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3332626



Internal ID14832899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68510945..68510945hg38UCSC Ensembl
InnerchrX:68510944..68510946hg38UCSC Ensembl
OuterchrX:68510885..68510995hg38UCSC Ensembl
chrX:67730787..67730787hg19UCSC Ensembl
InnerchrX:67730786..67730788hg19UCSC Ensembl
OuterchrX:67730727..67730837hg19UCSC Ensembl
chrX:67647512..67647512hg18UCSC Ensembl
InnerchrX:67647513..67647511hg18UCSC Ensembl
OuterchrX:67647452..67647562hg18UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg3867
hg1967
hg1867
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8846399
SamplesNA12878
Known GenesYIPF6
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3332626
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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