A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9757930



Internal ID18385490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:111890525..111890588hg38UCSC Ensembl
chrX:111133753..111133816hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3559183
Supporting Variants
Samples
Known GenesTRPC5, TRPC5OS
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9757930
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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