A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7102136



Internal ID10380418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:178832345..178833086hg38UCSC Ensembl
Outerchr3:178550133..178550874hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38742
hg19742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2832569
Supporting Variants
SamplesHuRef
Known GenesKCNMB2
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7102136
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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