A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675228



Internal ID14734204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62574334..62574348hg38UCSC Ensembl
Innerchr3:62574325..62574355hg38UCSC Ensembl
Outerchr3:62574311..62574369hg38UCSC Ensembl
chr3:62560009..62560023hg19UCSC Ensembl
Innerchr3:62560000..62560030hg19UCSC Ensembl
Outerchr3:62559986..62560044hg19UCSC Ensembl
chr3:62535049..62535063hg18UCSC Ensembl
Innerchr3:62535070..62535040hg18UCSC Ensembl
Outerchr3:62535026..62535084hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38227
hg19227
hg18227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3429228
Supporting Variants
SamplesNA19240
Known GenesCADPS
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675228
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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