A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309735



Internal ID14810000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:71272978..71272979hg38UCSC Ensembl
Innerchr7:71272951..71273006hg38UCSC Ensembl
Outerchr7:71272950..71273007hg38UCSC Ensembl
chr7:70737964..70737965hg19UCSC Ensembl
Innerchr7:70737937..70737992hg19UCSC Ensembl
Outerchr7:70737936..70737993hg19UCSC Ensembl
chr7:70375900..70375901hg18UCSC Ensembl
Innerchr7:70375928..70375873hg18UCSC Ensembl
Outerchr7:70375872..70375929hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837344, essv7837171
SamplesNA19239, NA19240
Known GenesWBSCR17
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309735
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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