A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8935062



Internal ID13780684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27641755..27641786hg38UCSC Ensembl
Innerchr7:27641770..27641771hg38UCSC Ensembl
Outerchr7:27641739..27641802hg38UCSC Ensembl
chr7:27681374..27681405hg19UCSC Ensembl
Innerchr7:27681389..27681390hg19UCSC Ensembl
Outerchr7:27681358..27681421hg19UCSC Ensembl
chr7:27647899..27647930hg18UCSC Ensembl
Innerchr7:27647915..27647914hg18UCSC Ensembl
Outerchr7:27647883..27647946hg18UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38256
hg19256
hg18256
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3332096
Supporting Variants
SamplesNA18501
Known GenesHIBADH
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8935062
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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