A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3346999



Internal ID15193981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43498736..43500434hg38UCSC Ensembl
Innerchr6:43499434..43499736hg38UCSC Ensembl
Outerchr6:43497736..43501434hg38UCSC Ensembl
chr6:43466474..43468172hg19UCSC Ensembl
Innerchr6:43467172..43467474hg19UCSC Ensembl
Outerchr6:43465474..43469172hg19UCSC Ensembl
chr6:43574452..43576150hg18UCSC Ensembl
Innerchr6:43575452..43575150hg18UCSC Ensembl
Outerchr6:43573452..43577150hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695308
SamplesNA19239
Known GenesTJAP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3346999
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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