A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9758631



Internal ID18386191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105046009..105048503hg38UCSC Ensembl
Outerchr2:105045543..105049144hg38UCSC Ensembl
Innerchr2:105662467..105664961hg19UCSC Ensembl
Outerchr2:105662001..105665602hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg383602
hg193602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3559884
Supporting Variants
Samples
Known GenesMRPS9
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9758631
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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