A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3326465



Internal ID14826745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:120280692..120280713hg38UCSC Ensembl
Innerchr7:120280695..120280710hg38UCSC Ensembl
Outerchr7:120280674..120280731hg38UCSC Ensembl
chr7:119920746..119920767hg19UCSC Ensembl
Innerchr7:119920749..119920764hg19UCSC Ensembl
Outerchr7:119920728..119920785hg19UCSC Ensembl
chr7:119707982..119708003hg18UCSC Ensembl
Innerchr7:119708000..119707985hg18UCSC Ensembl
Outerchr7:119707964..119708021hg18UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg38225
hg19225
hg18225
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8937371, essv8937372, essv8937375, essv8937370, essv8937373, essv8937374
SamplesNA18508, NA19190, NA18871, NA18523, NA19102, NA18505
Known GenesKCND2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3326465
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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