A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13511799



Internal ID4608724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70146869..70148966hg38UCSC Ensembl
Innerchr9:70146879..70148956hg38UCSC Ensembl
Outerchr9:70146859..70148976hg38UCSC Ensembl
chr9:72761785..72763882hg19UCSC Ensembl
Innerchr9:72761795..72763872hg19UCSC Ensembl
Outerchr9:72761775..72763892hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg382098
hg192098
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620571
Supporting Variants
SamplesHG04144
Known GenesMAMDC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13511799
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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