A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13520055



Internal ID5419000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:74086800..74089745hg38UCSC Ensembl
Innerchr9:74086874..74089671hg38UCSC Ensembl
Outerchr9:74086726..74089819hg38UCSC Ensembl
chr9:76701716..76704661hg19UCSC Ensembl
Innerchr9:76701790..76704587hg19UCSC Ensembl
Outerchr9:76701642..76704735hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg382946
hg192946
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620689
Supporting Variants
SamplesNA18950
Known GenesMIR6130
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13520055
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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