A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3377099



Internal ID14877364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:30461539..30461713hg38UCSC Ensembl
Innerchr10:30461612..30461638hg38UCSC Ensembl
Outerchr10:30461438..30461814hg38UCSC Ensembl
chr10:30750468..30750642hg19UCSC Ensembl
Innerchr10:30750541..30750567hg19UCSC Ensembl
Outerchr10:30750367..30750743hg19UCSC Ensembl
chr10:30790474..30790648hg18UCSC Ensembl
Innerchr10:30790573..30790547hg18UCSC Ensembl
Outerchr10:30790373..30790749hg18UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg383676
hg193676
hg183676
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8947876, essv8947873, essv8947874, essv8947875
SamplesNA07357, NA19005, NA18940, NA18853
Known GenesMAP3K8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3377099
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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