A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7797889



Internal ID13461588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143630227..143630228hg38UCSC Ensembl
Innerchr6:143630210..143630245hg38UCSC Ensembl
Outerchr6:143630209..143630246hg38UCSC Ensembl
chr6:143951364..143951365hg19UCSC Ensembl
Innerchr6:143951347..143951382hg19UCSC Ensembl
Outerchr6:143951346..143951383hg19UCSC Ensembl
chr6:143993057..143993058hg18UCSC Ensembl
Innerchr6:143993075..143993040hg18UCSC Ensembl
Outerchr6:143993039..143993076hg18UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg38287
hg19287
hg18287
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304242
Supporting Variants
SamplesNA12414
Known GenesPHACTR2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7797889
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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