A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8677681



Internal ID15100493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:37821208..37821227hg38UCSC Ensembl
Innerchr10:37821204..37821231hg38UCSC Ensembl
Outerchr10:37821185..37821250hg38UCSC Ensembl
chr10:38110136..38110155hg19UCSC Ensembl
Innerchr10:38110132..38110159hg19UCSC Ensembl
Outerchr10:38110113..38110178hg19UCSC Ensembl
chr10:38150142..38150161hg18UCSC Ensembl
Innerchr10:38150165..38150138hg18UCSC Ensembl
Outerchr10:38150119..38150184hg18UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3350289
Supporting Variants
SamplesNA19240
Known GenesZNF248
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8677681
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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