A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3389916



Internal ID14890197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93468469..93468480hg38UCSC Ensembl
Innerchr13:93468462..93468487hg38UCSC Ensembl
Outerchr13:93468451..93468498hg38UCSC Ensembl
chr13:94120722..94120733hg19UCSC Ensembl
Innerchr13:94120715..94120740hg19UCSC Ensembl
Outerchr13:94120704..94120751hg19UCSC Ensembl
chr13:92918723..92918734hg18UCSC Ensembl
Innerchr13:92918741..92918716hg18UCSC Ensembl
Outerchr13:92918705..92918752hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38247
hg19247
hg18247
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8963836, essv8963833, essv8963814, essv8963812, essv8963807, essv8963825, essv8963819, essv8963829, essv8963835, essv8963832, essv8963821, essv8963828, essv8963823, essv8963817, essv8963830, essv8963834, essv8963816, essv8963831, essv8963810, essv8963818, essv8963820, essv8963808, essv8963822, essv8963827, essv8963824, essv8963811, essv8963809, essv8963813
SamplesNA12154, NA18861, NA07347, NA18523, NA11918, NA18511, NA18516, NA12828, NA18517, NA18542, NA12776, NA12287, NA11919, NA12763, NA18566, NA12761, NA18638, NA11831, NA12751, NA07346, NA12716, NA18522, NA18502, NA18558, NA10851, NA12156, NA12003, NA12717
Known GenesGPC6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3389916
Frequency
Sample Size185
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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