A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3382112



Internal ID15229084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56972003..56972003hg38UCSC Ensembl
Innerchr8:56972002..56972004hg38UCSC Ensembl
Outerchr8:56971953..56972053hg38UCSC Ensembl
chr8:57884562..57884562hg19UCSC Ensembl
Innerchr8:57884561..57884563hg19UCSC Ensembl
Outerchr8:57884512..57884612hg19UCSC Ensembl
chr8:58047116..58047116hg18UCSC Ensembl
Innerchr8:58047117..58047115hg18UCSC Ensembl
Outerchr8:58047066..58047166hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38569
hg19569
hg18569
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741339
SamplesNA19240
Known GenesIMPAD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3382112
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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