A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621233



Internal ID6661412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:100486447..100492092hg38UCSC Ensembl
Innerchr9:100486497..100492042hg38UCSC Ensembl
Outerchr9:100486397..100492142hg38UCSC Ensembl
chr9:103248729..103254374hg19UCSC Ensembl
Innerchr9:103248779..103254324hg19UCSC Ensembl
Outerchr9:103248679..103254424hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg385646
hg195646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13580816
SamplesHG01979
Known GenesMSANTD3-TMEFF1, TMEFF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621233
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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