A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9758004



Internal ID18732250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:120241387..120241722hg38UCSC Ensembl
OuterchrX:120241361..120241793hg38UCSC Ensembl
InnerchrX:119375240..119375577hg19UCSC Ensembl
OuterchrX:119375214..119375648hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38433
hg19435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3559257
Supporting Variants
Samples
Known GenesNKAPP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9758004
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