A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676999



Internal ID13651732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127344408..127344418hg38UCSC Ensembl
Innerchr8:127344402..127344422hg38UCSC Ensembl
Outerchr8:127344394..127344432hg38UCSC Ensembl
chr8:128356654..128356664hg19UCSC Ensembl
Innerchr8:128356648..128356668hg19UCSC Ensembl
Outerchr8:128356640..128356678hg19UCSC Ensembl
chr8:128425836..128425846hg18UCSC Ensembl
Innerchr8:128425850..128425830hg18UCSC Ensembl
Outerchr8:128425822..128425860hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38118
hg19118
hg18118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3392005
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676999
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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