A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559329



Internal ID18760405
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 StatusM
Merged Variants
Supporting Variantsessv9758076
Samples
Known GenesRBMX2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559329
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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