A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9757631



Internal ID18385191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:53387247..53392516hg38UCSC Ensembl
OuterchrX:53387061..53393144hg38UCSC Ensembl
InnerchrX:53414167..53419436hg19UCSC Ensembl
OuterchrX:53413981..53420064hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg386084
hg196084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3558884
Supporting Variants
Samples
Known GenesSMC1A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9757631
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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