A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305142



Internal ID15152090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54849739..54849740hg38UCSC Ensembl
Innerchr6:54849711..54849768hg38UCSC Ensembl
Outerchr6:54849710..54849769hg38UCSC Ensembl
chr6:54714537..54714538hg19UCSC Ensembl
Innerchr6:54714509..54714566hg19UCSC Ensembl
Outerchr6:54714508..54714567hg19UCSC Ensembl
chr6:54822496..54822497hg18UCSC Ensembl
Innerchr6:54822525..54822468hg18UCSC Ensembl
Outerchr6:54822467..54822526hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38303
hg19303
hg18303
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7748136, essv7750411, essv7741982, essv7747280, essv7743067, essv7744308, essv7742796, essv7753345, essv7751014, essv7755193, essv7752685, essv7758227, essv7746962, essv7755939, essv7756368, essv7749676, essv7741531, essv7753110, essv7760266, essv7758410, essv7761120, essv7760910, essv7757137, essv7763298, essv7757703, essv7762192
SamplesNA12717, NA11920, NA18486, NA12750, NA07346, NA18489, NA18558, NA11992, NA11993, NA18605, NA12003, NA18871, NA18572, NA18907, NA19114, NA11919, NA18912, NA19099, NA19257, NA18523, NA18909, NA19093, NA19102, NA19116, NA18505, NA18522
Known GenesFAM83B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305142
Frequency
Sample Size185
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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