A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837171



Internal ID14691886
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 StatusS
Merged Variantsesv3309735
Supporting Variants
SamplesNA19239
Known GenesWBSCR17
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837171
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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