A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9758076



Internal ID18732322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:130405843..130406117hg38UCSC Ensembl
OuterchrX:130405771..130406193hg38UCSC Ensembl
InnerchrX:129539817..129540091hg19UCSC Ensembl
OuterchrX:129539745..129540167hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3559329
Supporting Variants
Samples
Known GenesRBMX2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9758076
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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