A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3373783



Internal ID15220758
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 StatusM
Merged Variantsdgv3807e59
Supporting Variantsessv8695813
SamplesNA19239
Known GenesEGFR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3373783
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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