A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3412966



Internal ID15259925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:52336204..52336223hg38UCSC Ensembl
Innerchr7:52336200..52336227hg38UCSC Ensembl
Outerchr7:52336181..52336246hg38UCSC Ensembl
chr7:52403900..52403919hg19UCSC Ensembl
Innerchr7:52403896..52403923hg19UCSC Ensembl
Outerchr7:52403877..52403942hg19UCSC Ensembl
chr7:52371394..52371413hg18UCSC Ensembl
Innerchr7:52371417..52371390hg18UCSC Ensembl
Outerchr7:52371371..52371436hg18UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9634036, essv9634047
SamplesNA11894, NA12249
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3412966
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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