A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9765906



Internal ID18393466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:107860521..107862583hg38UCSC Ensembl
Outerchr1:107860280..107862898hg38UCSC Ensembl
Innerchr1:108403143..108405205hg19UCSC Ensembl
Outerchr1:108402902..108405520hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382619
hg192619
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3567159
Supporting Variants
Samples
Known GenesVAV3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9765906
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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