A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13620903



Internal ID3622719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:126366931..126961124hg38UCSC Ensembl
Innerchr9:126367081..126960974hg38UCSC Ensembl
Outerchr9:126366781..126961274hg38UCSC Ensembl
chr9:129129210..129723403hg19UCSC Ensembl
Innerchr9:129129360..129723253hg19UCSC Ensembl
Outerchr9:129129060..129723553hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38594194
hg19594194
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621766
Supporting Variants
SamplesHG01602
Known GenesLMX1B, MVB12B, NRON, RALGPS1, ZBTB34, ZBTB43
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13620903
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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