A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558915



Internal ID18759991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:63770537..63774179hg38UCSC Ensembl
OuterchrX:63770526..63774188hg38UCSC Ensembl
InnerchrX:62990417..62994059hg19UCSC Ensembl
OuterchrX:62990406..62994068hg19UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg383663
hg193663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757662
Samples
Known GenesARHGEF9
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558915
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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