A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558858



Internal ID18759934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:47708697..47712361hg38UCSC Ensembl
OuterchrX:47708681..47712534hg38UCSC Ensembl
InnerchrX:47568096..47571760hg19UCSC Ensembl
OuterchrX:47568080..47571933hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg383854
hg193854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757605
Samples
Known GenesCXXC1P1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558858
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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