A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619179



Internal ID7006059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:252465..489287hg38UCSC Ensembl
Innerchr9:252615..489137hg38UCSC Ensembl
Outerchr9:252315..489437hg38UCSC Ensembl
chr9:252465..489287hg19UCSC Ensembl
Innerchr9:252615..489137hg19UCSC Ensembl
Outerchr9:252315..489437hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38236823
hg19236823
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1431e214
Supporting Variantsessv13373881, essv13373879, essv13373880, essv13373877, essv13373878, essv13373882
SamplesHG01602, HG01686, HG03577, HG03803, NA19917, HG04152
Known GenesDOCK8, KANK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619179
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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