A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309839



Internal ID14810104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:71204022..71204023hg38UCSC Ensembl
Innerchr7:71204005..71204040hg38UCSC Ensembl
Outerchr7:71204004..71204041hg38UCSC Ensembl
chr7:70669008..70669009hg19UCSC Ensembl
Innerchr7:70668991..70669026hg19UCSC Ensembl
Outerchr7:70668990..70669027hg19UCSC Ensembl
chr7:70306944..70306945hg18UCSC Ensembl
Innerchr7:70306962..70306927hg18UCSC Ensembl
Outerchr7:70306926..70306963hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7841620, essv7842878
SamplesNA19239, NA19240
Known GenesWBSCR17
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309839
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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