A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13606766



Internal ID3608582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113366366..113368577hg38UCSC Ensembl
Innerchr9:113366366..113368577hg38UCSC Ensembl
Outerchr9:113366277..113368848hg38UCSC Ensembl
chr9:116128646..116130857hg19UCSC Ensembl
Innerchr9:116128646..116130857hg19UCSC Ensembl
Outerchr9:116128557..116131128hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg382212
hg192212
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621543
Supporting Variants
SamplesNA18631
Known GenesBSPRY
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13606766
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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