A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440301



Internal ID15287254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7962703..7962710hg38UCSC Ensembl
Innerchr7:7962705..7962708hg38UCSC Ensembl
Outerchr7:7962701..7962712hg38UCSC Ensembl
chr7:8002334..8002341hg19UCSC Ensembl
Innerchr7:8002336..8002339hg19UCSC Ensembl
Outerchr7:8002332..8002343hg19UCSC Ensembl
chr7:7968859..7968866hg18UCSC Ensembl
Innerchr7:7968861..7968864hg18UCSC Ensembl
Outerchr7:7968857..7968868hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864685
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3440301
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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