A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8965171



Internal ID13553171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:38274884..38274938hg38UCSC Ensembl
Innerchr14:38274908..38274912hg38UCSC Ensembl
Outerchr14:38274854..38274968hg38UCSC Ensembl
chr14:38744089..38744143hg19UCSC Ensembl
Innerchr14:38744113..38744117hg19UCSC Ensembl
Outerchr14:38744059..38744173hg19UCSC Ensembl
chr14:37813840..37813894hg18UCSC Ensembl
Innerchr14:37813868..37813864hg18UCSC Ensembl
Outerchr14:37813810..37813924hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38197
hg19197
hg18197
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3441210
Supporting Variants
SamplesNA12761
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8965171
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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