A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622046



Internal ID6662216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137879214..137882785hg38UCSC Ensembl
Innerchr9:137879214..137882785hg38UCSC Ensembl
Outerchr9:137878127..137883223hg38UCSC Ensembl
chr9:140773666..140777237hg19UCSC Ensembl
Innerchr9:140773666..140777237hg19UCSC Ensembl
Outerchr9:140772579..140777675hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg383572
hg193572
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13660507, essv13660506, essv13660509, essv13660508
SamplesNA12828, NA12718, HG01260, NA20772
Known GenesCACNA1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622046
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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