A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417127



Internal ID15264085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:7330415..7330430hg38UCSC Ensembl
Innerchr2:7330389..7330456hg38UCSC Ensembl
Outerchr2:7330374..7330471hg38UCSC Ensembl
chr2:7470546..7470561hg19UCSC Ensembl
Innerchr2:7470520..7470587hg19UCSC Ensembl
Outerchr2:7470505..7470602hg19UCSC Ensembl
chr2:7387997..7388012hg18UCSC Ensembl
Innerchr2:7388038..7387971hg18UCSC Ensembl
Outerchr2:7387956..7388053hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863863
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417127
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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