A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13629565



Internal ID5481972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:130360599..130361708hg38UCSC Ensembl
Innerchr9:130360612..130361696hg38UCSC Ensembl
Outerchr9:130360587..130361721hg38UCSC Ensembl
chr9:133235986..133237095hg19UCSC Ensembl
Innerchr9:133235999..133237083hg19UCSC Ensembl
Outerchr9:133235974..133237108hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg381110
hg191110
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621860
Supporting Variants
SamplesNA18978
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13629565
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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