A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559281



Internal ID18760357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:123238823..123239558hg38UCSC Ensembl
OuterchrX:123238686..123239635hg38UCSC Ensembl
InnerchrX:122372674..122373409hg19UCSC Ensembl
OuterchrX:122372537..122373486hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38950
hg19950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758028
Samples
Known GenesGRIA3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559281
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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