A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15070075



Internal ID6900774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77828815..77830738hg38UCSC Ensembl
Innerchr14:77828815..77830738hg38UCSC Ensembl
Outerchr14:77828423..77831143hg38UCSC Ensembl
chr14:78295158..78297081hg19UCSC Ensembl
Innerchr14:78295158..78297081hg19UCSC Ensembl
Outerchr14:78294766..78297486hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381924
hg191924
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635015
Supporting Variants
SamplesNA21109
Known GenesADCK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15070075
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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