A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8978683



Internal ID13215499
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 StatusS
Merged Variantsesv3429512
Supporting Variants
SamplesNA11920
Known GenesTRPC5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8978683
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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