A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621234



Internal ID7008103
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13580820, essv13580818, essv13580823, essv13580819, essv13580822, essv13580825, essv13580821, essv13580817, essv13580824
SamplesHG03926, HG03911, HG03868, HG03919, HG03967, HG03848, HG03789, HG04171, HG04061
Known GenesMSANTD3-TMEFF1, TMEFF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621234
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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