A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7840656



Internal ID13698901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:163393171..163393172hg38UCSC Ensembl
Innerchr6:163393154..163393189hg38UCSC Ensembl
Outerchr6:163393153..163393190hg38UCSC Ensembl
chr6:163814203..163814204hg19UCSC Ensembl
Innerchr6:163814186..163814221hg19UCSC Ensembl
Outerchr6:163814185..163814222hg19UCSC Ensembl
chr6:163734193..163734194hg18UCSC Ensembl
Innerchr6:163734211..163734176hg18UCSC Ensembl
Outerchr6:163734175..163734212hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38311
hg19311
hg18311
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310134
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7840656
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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