A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9761719



Internal ID18389279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:178832523..178833079hg38UCSC Ensembl
Outerchr3:178832336..178833154hg38UCSC Ensembl
Innerchr3:178550311..178550867hg19UCSC Ensembl
Outerchr3:178550124..178550942hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38819
hg19819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3562972
Supporting Variants
Samples
Known GenesKCNMB2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9761719
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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