A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13630761



Internal ID4692731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:130909668..130917508hg38UCSC Ensembl
Innerchr9:130910168..130917008hg38UCSC Ensembl
Outerchr9:130908668..130918508hg38UCSC Ensembl
chr9:133785055..133792895hg19UCSC Ensembl
Innerchr9:133785555..133792395hg19UCSC Ensembl
Outerchr9:133784055..133793895hg19UCSC Ensembl
Cytoband9q34.12
Allele length
AssemblyAllele length
hg387841
hg197841
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621871
Supporting Variants
SamplesHG04212
Known GenesFIBCD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13630761
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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