A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15055895



Internal ID5057711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73530491..73557899hg38UCSC Ensembl
Innerchr14:73530991..73557399hg38UCSC Ensembl
Outerchr14:73529491..73558899hg38UCSC Ensembl
chr14:73997195..74024603hg19UCSC Ensembl
Innerchr14:73997695..74024103hg19UCSC Ensembl
Outerchr14:73996195..74025603hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3827409
hg1927409
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634909
Supporting Variants
SamplesHG00173
Known GenesACOT1, HEATR4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15055895
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer