A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428529



Internal ID15275485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73548195..73554193hg38UCSC Ensembl
Innerchr14:73549195..73553193hg38UCSC Ensembl
Outerchr14:73547195..73555193hg38UCSC Ensembl
chr14:74014899..74020897hg19UCSC Ensembl
Innerchr14:74015899..74019897hg19UCSC Ensembl
Outerchr14:74013899..74021897hg19UCSC Ensembl
chr14:73084652..73090650hg18UCSC Ensembl
Innerchr14:73085652..73089650hg18UCSC Ensembl
Outerchr14:73083652..73091650hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg385999
hg195999
hg185999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689490
SamplesNA12891
Known GenesHEATR4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428529
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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