A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9757605



Internal ID18731851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:47708697..47712361hg38UCSC Ensembl
OuterchrX:47708681..47712534hg38UCSC Ensembl
InnerchrX:47568096..47571760hg19UCSC Ensembl
OuterchrX:47568080..47571933hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg383854
hg193854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3558858
Supporting Variants
Samples
Known GenesCXXC1P1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9757605
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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