A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598823



Internal ID6972341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:178686837..178687581hg38UCSC Ensembl
Innerchr3:178686840..178687579hg38UCSC Ensembl
Outerchr3:178686835..178687584hg38UCSC Ensembl
chr3:178404625..178405369hg19UCSC Ensembl
Innerchr3:178404628..178405367hg19UCSC Ensembl
Outerchr3:178404623..178405372hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38745
hg19745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11241769, essv11241771, essv11241774, essv11241776, essv11241775, essv11241772, essv11241773, essv11241770
SamplesHG01462, NA20759, HG02252, NA20515, HG03866, HG00319, HG01491, HG04209
Known GenesKCNMB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598823
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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