A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3410641



Internal ID14910915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88387395..88387405hg38UCSC Ensembl
Innerchr14:88387387..88387411hg38UCSC Ensembl
Outerchr14:88387377..88387423hg38UCSC Ensembl
chr14:88853739..88853749hg19UCSC Ensembl
Innerchr14:88853731..88853755hg19UCSC Ensembl
Outerchr14:88853721..88853767hg19UCSC Ensembl
chr14:87923492..87923502hg18UCSC Ensembl
Innerchr14:87923508..87923484hg18UCSC Ensembl
Outerchr14:87923474..87923520hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673085, essv8673084
SamplesNA19239, NA19240
Known GenesSPATA7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3410641
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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