A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8911530



Internal ID14569149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2801657..2801687hg38UCSC Ensembl
Innerchr3:2801664..2801678hg38UCSC Ensembl
Outerchr3:2801634..2801708hg38UCSC Ensembl
chr3:2843341..2843371hg19UCSC Ensembl
Innerchr3:2843348..2843362hg19UCSC Ensembl
Outerchr3:2843318..2843392hg19UCSC Ensembl
chr3:2818341..2818371hg18UCSC Ensembl
Innerchr3:2818362..2818348hg18UCSC Ensembl
Outerchr3:2818318..2818392hg18UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38240
hg19240
hg18240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3355356
Supporting Variants
SamplesNA19147
Known GenesCNTN4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8911530
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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