A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8701302



Internal ID13295824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105439156..105439156hg38UCSC Ensembl
Innerchr14:105439155..105439157hg38UCSC Ensembl
Outerchr14:105439106..105439206hg38UCSC Ensembl
chr14:105905493..105905493hg19UCSC Ensembl
Innerchr14:105905492..105905494hg19UCSC Ensembl
Outerchr14:105905443..105905543hg19UCSC Ensembl
chr14:104976538..104976538hg18UCSC Ensembl
Innerchr14:104976539..104976537hg18UCSC Ensembl
Outerchr14:104976488..104976588hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3360291
Supporting Variants
SamplesNA12878
Known GenesMTA1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8701302
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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