A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3429512



Internal ID15276468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:111986327..111986342hg38UCSC Ensembl
InnerchrX:111986326..111986343hg38UCSC Ensembl
OuterchrX:111986311..111986358hg38UCSC Ensembl
chrX:111229555..111229570hg19UCSC Ensembl
InnerchrX:111229554..111229571hg19UCSC Ensembl
OuterchrX:111229539..111229586hg19UCSC Ensembl
chrX:111116211..111116226hg18UCSC Ensembl
InnerchrX:111116227..111116210hg18UCSC Ensembl
OuterchrX:111116195..111116242hg18UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg386030
hg196030
hg186030
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8978683, essv8978678, essv8978679, essv8978684, essv8978677, essv8978685, essv8978680, essv8978676, essv8978686, essv8978682
SamplesNA12717, NA11995, NA18508, NA11920, NA07346, NA12044, NA12489, NA18573, NA11894, NA12776
Known GenesTRPC5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3429512
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer