A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3341940



Internal ID14842208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52427556..52427565hg38UCSC Ensembl
Innerchr6:52427558..52427563hg38UCSC Ensembl
Outerchr6:52427554..52427567hg38UCSC Ensembl
chr6:52292354..52292363hg19UCSC Ensembl
Innerchr6:52292356..52292361hg19UCSC Ensembl
Outerchr6:52292352..52292365hg19UCSC Ensembl
chr6:52400313..52400322hg18UCSC Ensembl
Innerchr6:52400315..52400320hg18UCSC Ensembl
Outerchr6:52400311..52400324hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864591
SamplesNA12005
Known GenesEFHC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3341940
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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