A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865771



Internal ID13318059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:84220717..84220731hg38UCSC Ensembl
Innerchr14:84220692..84220756hg38UCSC Ensembl
Outerchr14:84220678..84220770hg38UCSC Ensembl
chr14:84687061..84687075hg19UCSC Ensembl
Innerchr14:84687036..84687100hg19UCSC Ensembl
Outerchr14:84687022..84687114hg19UCSC Ensembl
chr14:83756814..83756828hg18UCSC Ensembl
Innerchr14:83756853..83756789hg18UCSC Ensembl
Outerchr14:83756775..83756867hg18UCSC Ensembl
Cytoband14q31.2
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3373141
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865771
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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