A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8670431



Internal ID13305971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12966100..12966216hg38UCSC Ensembl
Innerchr10:12966128..12966186hg38UCSC Ensembl
Outerchr10:12966070..12966244hg38UCSC Ensembl
chr10:13008100..13008216hg19UCSC Ensembl
Innerchr10:13008128..13008186hg19UCSC Ensembl
Outerchr10:13008070..13008244hg19UCSC Ensembl
chr10:13048106..13048222hg18UCSC Ensembl
Innerchr10:13048134..13048192hg18UCSC Ensembl
Outerchr10:13048076..13048250hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38117
hg19117
hg18117
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3352556
Supporting Variants
SamplesNA12878
Known GenesCCDC3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8670431
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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