A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8687920



Internal ID13343908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12774947..12776145hg38UCSC Ensembl
Innerchr10:12775145..12775947hg38UCSC Ensembl
Outerchr10:12773947..12777145hg38UCSC Ensembl
chr10:12816946..12818144hg19UCSC Ensembl
Innerchr10:12817144..12817946hg19UCSC Ensembl
Outerchr10:12815946..12819144hg19UCSC Ensembl
chr10:12856952..12858150hg18UCSC Ensembl
Innerchr10:12857952..12857150hg18UCSC Ensembl
Outerchr10:12855952..12859150hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3410646
Supporting Variants
SamplesNA12891
Known GenesCAMK1D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8687920
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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