A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15040607



Internal ID6463188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64169924..64294015hg38UCSC Ensembl
chr14:64636642..64760733hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38124092
hg19124092
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634746
Supporting Variants
SamplesNA20517
Known GenesESR2, MIR548AZ, SYNE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15040607
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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