A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559064



Internal ID18760140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:87647697..87648322hg38UCSC Ensembl
OuterchrX:87647669..87648366hg38UCSC Ensembl
InnerchrX:86902697..86903322hg19UCSC Ensembl
OuterchrX:86902669..86903366hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg38698
hg19698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757811
Samples
Known GenesKLHL4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559064
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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