A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864225



Internal ID13316718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183214832..183214845hg38UCSC Ensembl
Innerchr3:183214808..183214869hg38UCSC Ensembl
Outerchr3:183214795..183214882hg38UCSC Ensembl
chr3:182932620..182932633hg19UCSC Ensembl
Innerchr3:182932596..182932657hg19UCSC Ensembl
Outerchr3:182932583..182932670hg19UCSC Ensembl
chr3:184415314..184415327hg18UCSC Ensembl
Innerchr3:184415351..184415290hg18UCSC Ensembl
Outerchr3:184415277..184415364hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3442467
Supporting Variants
SamplesNA12005
Known GenesMCF2L2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864225
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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