A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621469



Internal ID6661648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110675169..110676738hg38UCSC Ensembl
Innerchr9:110675171..110676736hg38UCSC Ensembl
Outerchr9:110675167..110676740hg38UCSC Ensembl
chr9:113437449..113439018hg19UCSC Ensembl
Innerchr9:113437451..113439016hg19UCSC Ensembl
Outerchr9:113437447..113439020hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg381570
hg191570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13599540, essv13599543, essv13599544, essv13599538, essv13599541, essv13599545, essv13599539, essv13599542, essv13599546
SamplesNA19394, HG02702, NA19704, HG02439, NA19462, HG02455, NA19206, HG03458, NA19316
Known GenesMUSK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621469
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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