A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598822



Internal ID6639087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:178573123..178577000hg38UCSC Ensembl
Innerchr3:178573129..178576995hg38UCSC Ensembl
Outerchr3:178573118..178577006hg38UCSC Ensembl
chr3:178290911..178294788hg19UCSC Ensembl
Innerchr3:178290917..178294783hg19UCSC Ensembl
Outerchr3:178290906..178294794hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg383878
hg193878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11241768
SamplesHG03625
Known GenesKCNMB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598822
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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