A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621719



Internal ID7008586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:124294242..124295788hg38UCSC Ensembl
Innerchr9:124294242..124295788hg38UCSC Ensembl
Outerchr9:124294071..124295946hg38UCSC Ensembl
chr9:127056521..127058067hg19UCSC Ensembl
Innerchr9:127056521..127058067hg19UCSC Ensembl
Outerchr9:127056350..127058225hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg381547
hg191547
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13618673
SamplesNA18605
Known GenesNEK6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621719
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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