A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305490



Internal ID15152438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:46310737..46310738hg38UCSC Ensembl
Innerchr7:46310710..46310765hg38UCSC Ensembl
Outerchr7:46310709..46310766hg38UCSC Ensembl
chr7:46350335..46350336hg19UCSC Ensembl
Innerchr7:46350308..46350363hg19UCSC Ensembl
Outerchr7:46350307..46350364hg19UCSC Ensembl
chr7:46316860..46316861hg18UCSC Ensembl
Innerchr7:46316888..46316833hg18UCSC Ensembl
Outerchr7:46316832..46316889hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38732
hg19732
hg18732
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7745102, essv7751625, essv7762833, essv7760598, essv7753006, essv7759393, essv7755774, essv7742688, essv7762417, essv7750948, essv7749992
SamplesNA18545, NA12750, NA18944, NA11918, NA07347, NA18964, NA10847, NA12144, NA18593, NA18943, NA18577
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305490
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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