A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13615195



Internal ID1993674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:120680899..120685520hg38UCSC Ensembl
Innerchr9:120680911..120685509hg38UCSC Ensembl
Outerchr9:120680888..120685532hg38UCSC Ensembl
chr9:123443177..123447798hg19UCSC Ensembl
Innerchr9:123443189..123447787hg19UCSC Ensembl
Outerchr9:123443166..123447810hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg384622
hg194622
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621655
Supporting Variants
SamplesHG01848
Known GenesMEGF9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13615195
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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