A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13618081



Internal ID1039041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:122085330..122087086hg38UCSC Ensembl
Innerchr9:122085349..122087068hg38UCSC Ensembl
Outerchr9:122085312..122087105hg38UCSC Ensembl
chr9:124847609..124849365hg19UCSC Ensembl
Innerchr9:124847628..124849347hg19UCSC Ensembl
Outerchr9:124847591..124849384hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg381757
hg191757
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621678
Supporting Variants
SamplesHG00657
Known GenesTTLL11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13618081
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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