A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3362320



Internal ID15209298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:38424646..38424654hg38UCSC Ensembl
Innerchr7:38424629..38424671hg38UCSC Ensembl
Outerchr7:38424621..38424679hg38UCSC Ensembl
chr7:38464246..38464254hg19UCSC Ensembl
Innerchr7:38464229..38464271hg19UCSC Ensembl
Outerchr7:38464221..38464279hg19UCSC Ensembl
chr7:38430771..38430779hg18UCSC Ensembl
Innerchr7:38430796..38430754hg18UCSC Ensembl
Outerchr7:38430746..38430804hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864702
SamplesNA18516
Known GenesAMPH
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3362320
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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