A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8679374



Internal ID15109673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:74063719..74063738hg38UCSC Ensembl
Innerchr8:74063715..74063742hg38UCSC Ensembl
Outerchr8:74063696..74063761hg38UCSC Ensembl
chr8:74975954..74975973hg19UCSC Ensembl
Innerchr8:74975950..74975977hg19UCSC Ensembl
Outerchr8:74975931..74975996hg19UCSC Ensembl
chr8:75138508..75138527hg18UCSC Ensembl
Innerchr8:75138531..75138504hg18UCSC Ensembl
Outerchr8:75138485..75138550hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3346651
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8679374
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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