A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9757915



Internal ID18732161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:105947184..105947446hg38UCSC Ensembl
OuterchrX:105947147..105947512hg38UCSC Ensembl
InnerchrX:105191176..105191438hg19UCSC Ensembl
OuterchrX:105191139..105191504hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3559168
Supporting Variants
Samples
Known GenesNRK
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9757915
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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