A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9757407



Internal ID18384967
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 StatusS
Merged Variantsesv3558660
Supporting Variants
Samples
Known GenesPDHA1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9757407
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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