A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559257



Internal ID18760333
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 StatusM
Merged Variants
Supporting Variantsessv9758004
Samples
Known GenesNKAPP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559257
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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