A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7838377



Internal ID13698319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:52740606..52740607hg38UCSC Ensembl
Innerchr7:52740573..52740640hg38UCSC Ensembl
Outerchr7:52740572..52740641hg38UCSC Ensembl
chr7:52808300..52808301hg19UCSC Ensembl
Innerchr7:52808267..52808334hg19UCSC Ensembl
Outerchr7:52808266..52808335hg19UCSC Ensembl
chr7:52775794..52775795hg18UCSC Ensembl
Innerchr7:52775828..52775761hg18UCSC Ensembl
Outerchr7:52775760..52775829hg18UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38296
hg19296
hg18296
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307927
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7838377
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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