A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621720



Internal ID7008587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:124310392..124312406hg38UCSC Ensembl
Innerchr9:124310392..124312406hg38UCSC Ensembl
Outerchr9:124310100..124312663hg38UCSC Ensembl
chr9:127072671..127074685hg19UCSC Ensembl
Innerchr9:127072671..127074685hg19UCSC Ensembl
Outerchr9:127072379..127074942hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg382015
hg192015
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13618676, essv13618675, essv13618674
SamplesNA19443, NA19455, NA19473
Known GenesNEK6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621720
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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