A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559190



Internal ID18760266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:112665783..112667571hg38UCSC Ensembl
OuterchrX:112665747..112667674hg38UCSC Ensembl
InnerchrX:111909011..111910799hg19UCSC Ensembl
OuterchrX:111908975..111910902hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg381928
hg191928
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757937
Samples
Known GenesLHFPL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559190
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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