A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13525034



Internal ID3526850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:74472301..74477066hg38UCSC Ensembl
Innerchr9:74472451..74476916hg38UCSC Ensembl
Outerchr9:74472151..74477216hg38UCSC Ensembl
chr9:77087217..77091982hg19UCSC Ensembl
Innerchr9:77087367..77091832hg19UCSC Ensembl
Outerchr9:77087067..77092132hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg384766
hg194766
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620702
Supporting Variants
SamplesHG02385
Known GenesMIR6130
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13525034
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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