A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7767769



Internal ID12849231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102938407..102938408hg38UCSC Ensembl
Innerchr14:102938385..102938430hg38UCSC Ensembl
Outerchr14:102938384..102938431hg38UCSC Ensembl
chr14:103404744..103404745hg19UCSC Ensembl
Innerchr14:103404722..103404767hg19UCSC Ensembl
Outerchr14:103404721..103404768hg19UCSC Ensembl
chr14:102474497..102474498hg18UCSC Ensembl
Innerchr14:102474520..102474475hg18UCSC Ensembl
Outerchr14:102474474..102474521hg18UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305477
Supporting Variants
SamplesNA11918
Known GenesCDC42BPB
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7767769
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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