A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9757375



Internal ID18731621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:12664911..12671355hg38UCSC Ensembl
OuterchrX:12664882..12672381hg38UCSC Ensembl
InnerchrX:12683030..12689474hg19UCSC Ensembl
OuterchrX:12683001..12690500hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg387500
hg197500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3558628
Supporting Variants
Samples
Known GenesFRMPD4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9757375
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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