A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9744246



Internal ID18718492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:128938671..128939802hg38UCSC Ensembl
Outerchr9:128938537..128939995hg38UCSC Ensembl
Innerchr9:131700950..131702081hg19UCSC Ensembl
Outerchr9:131700816..131702274hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg381459
hg191459
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3545499
Supporting Variants
Samples
Known GenesPHYHD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9744246
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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