A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13620904



Internal ID5815311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:126376552..126378374hg38UCSC Ensembl
Innerchr9:126376552..126378374hg38UCSC Ensembl
Outerchr9:126376388..126378555hg38UCSC Ensembl
chr9:129138831..129140653hg19UCSC Ensembl
Innerchr9:129138831..129140653hg19UCSC Ensembl
Outerchr9:129138667..129140834hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg381823
hg191823
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621767
Supporting Variants
SamplesNA19190
Known GenesMVB12B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13620904
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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