A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675160



Internal ID14733830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2920308..2920318hg38UCSC Ensembl
Innerchr3:2920300..2920326hg38UCSC Ensembl
Outerchr3:2920290..2920336hg38UCSC Ensembl
chr3:2961992..2962002hg19UCSC Ensembl
Innerchr3:2961984..2962010hg19UCSC Ensembl
Outerchr3:2961974..2962020hg19UCSC Ensembl
chr3:2936992..2937002hg18UCSC Ensembl
Innerchr3:2937010..2936984hg18UCSC Ensembl
Outerchr3:2936974..2937020hg18UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3439940
Supporting Variants
SamplesNA19240
Known GenesCNTN4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675160
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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