A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695813



Internal ID15055047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:55166365..55167963hg38UCSC Ensembl
Innerchr7:55166963..55167365hg38UCSC Ensembl
Outerchr7:55165365..55168963hg38UCSC Ensembl
chr7:55234058..55235656hg19UCSC Ensembl
Innerchr7:55234656..55235058hg19UCSC Ensembl
Outerchr7:55233058..55236656hg19UCSC Ensembl
chr7:55201552..55203150hg18UCSC Ensembl
Innerchr7:55202552..55202150hg18UCSC Ensembl
Outerchr7:55200552..55204150hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3373783
Supporting Variants
SamplesNA19239
Known GenesEGFR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695813
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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