A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558868



Internal ID18759944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:48642116..48644532hg38UCSC Ensembl
OuterchrX:48642099..48644612hg38UCSC Ensembl
InnerchrX:48500504..48502920hg19UCSC Ensembl
OuterchrX:48500487..48503000hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg382514
hg192514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757615
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558868
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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