A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621549



Internal ID6661727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113836116..114331078hg38UCSC Ensembl
Innerchr9:113836266..114330928hg38UCSC Ensembl
Outerchr9:113835966..114331228hg38UCSC Ensembl
chr9:116598396..117093358hg19UCSC Ensembl
Innerchr9:116598546..117093208hg19UCSC Ensembl
Outerchr9:116598246..117093508hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38494963
hg19494963
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13606914
SamplesHG01602
Known GenesAMBP, COL27A1, KIF12, MIR455, ORM1, ORM2, ZNF618
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621549
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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