A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558660



Internal ID18413050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:19356656..19356828hg38UCSC Ensembl
OuterchrX:19356655..19356831hg38UCSC Ensembl
InnerchrX:19374774..19374946hg19UCSC Ensembl
OuterchrX:19374773..19374949hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv503e215
Supporting Variantsessv9757407
Samples
Known GenesPDHA1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558660
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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