A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302467



Internal ID15149414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:40915743..40915980hg38UCSC Ensembl
Innerchr7:40915843..40915880hg38UCSC Ensembl
Outerchr7:40915643..40916080hg38UCSC Ensembl
chr7:40955342..40955579hg19UCSC Ensembl
Innerchr7:40955442..40955479hg19UCSC Ensembl
Outerchr7:40955242..40955679hg19UCSC Ensembl
chr7:40921867..40922104hg18UCSC Ensembl
Innerchr7:40921967..40922004hg18UCSC Ensembl
Outerchr7:40921767..40922204hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38238
hg19238
hg18238
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3776e59
Supporting Variantsessv7730912
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302467
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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