A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9757408



Internal ID18384968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:19356682..19356816hg38UCSC Ensembl
OuterchrX:19356669..19356818hg38UCSC Ensembl
InnerchrX:19374800..19374934hg19UCSC Ensembl
OuterchrX:19374787..19374936hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3558661
Supporting Variants
Samples
Known GenesPDHA1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9757408
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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