A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13618444



Internal ID1034268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123418612..123422915hg38UCSC Ensembl
Innerchr9:123418612..123422915hg38UCSC Ensembl
Outerchr9:123418367..123423168hg38UCSC Ensembl
chr9:126180891..126185194hg19UCSC Ensembl
Innerchr9:126180891..126185194hg19UCSC Ensembl
Outerchr9:126180646..126185447hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg384304
hg194304
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621692
Supporting Variants
SamplesHG00654
Known GenesDENND1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13618444
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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