A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559258



Internal ID18413648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:120463736..120463957hg38UCSC Ensembl
OuterchrX:120463725..120463958hg38UCSC Ensembl
InnerchrX:119597591..119597812hg19UCSC Ensembl
OuterchrX:119597580..119597813hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758005
Samples
Known GenesLAMP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559258
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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