A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13580818



Internal ID4282526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:100492773..100495783hg38UCSC Ensembl
Innerchr9:100492773..100495783hg38UCSC Ensembl
Outerchr9:100492512..100496019hg38UCSC Ensembl
chr9:103255055..103258065hg19UCSC Ensembl
Innerchr9:103255055..103258065hg19UCSC Ensembl
Outerchr9:103254794..103258301hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg383011
hg193011
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621234
Supporting Variants
SamplesHG03848
Known GenesMSANTD3-TMEFF1, TMEFF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13580818
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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