A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622047



Internal ID7008906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137897393..137908323hg38UCSC Ensembl
Innerchr9:137897437..137908280hg38UCSC Ensembl
Outerchr9:137897350..137908367hg38UCSC Ensembl
chr9:140791845..140802775hg19UCSC Ensembl
Innerchr9:140791889..140802732hg19UCSC Ensembl
Outerchr9:140791802..140802819hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3810931
hg1910931
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13660510
SamplesHG02360
Known GenesCACNA1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622047
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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