A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335724



Internal ID14835997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103426275..103426290hg38UCSC Ensembl
Innerchr14:103426249..103426316hg38UCSC Ensembl
Outerchr14:103426234..103426331hg38UCSC Ensembl
chr14:103892612..103892627hg19UCSC Ensembl
Innerchr14:103892586..103892653hg19UCSC Ensembl
Outerchr14:103892571..103892668hg19UCSC Ensembl
chr14:102962365..102962380hg18UCSC Ensembl
Innerchr14:102962406..102962339hg18UCSC Ensembl
Outerchr14:102962324..102962421hg18UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865789
SamplesNA12005
Known GenesMARK3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335724
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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