A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678090



Internal ID14756187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:91273355..91273374hg38UCSC Ensembl
Innerchr14:91273351..91273378hg38UCSC Ensembl
Outerchr14:91273332..91273397hg38UCSC Ensembl
chr14:91739699..91739718hg19UCSC Ensembl
Innerchr14:91739695..91739722hg19UCSC Ensembl
Outerchr14:91739676..91739741hg19UCSC Ensembl
chr14:90809452..90809471hg18UCSC Ensembl
Innerchr14:90809475..90809448hg18UCSC Ensembl
Outerchr14:90809429..90809494hg18UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3333557
Supporting Variants
SamplesNA19240
Known GenesCCDC88C
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678090
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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