A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3439312



Internal ID15286265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:109581805..109581881hg38UCSC Ensembl
Innerchr7:109581798..109581886hg38UCSC Ensembl
Outerchr7:109581722..109581962hg38UCSC Ensembl
chr7:109221862..109221938hg19UCSC Ensembl
Innerchr7:109221855..109221943hg19UCSC Ensembl
Outerchr7:109221779..109222019hg19UCSC Ensembl
chr7:109009098..109009174hg18UCSC Ensembl
Innerchr7:109009179..109009091hg18UCSC Ensembl
Outerchr7:109009015..109009255hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38250
hg19250
hg18250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8936904, essv8936905
SamplesNA19190, NA19210
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3439312
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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