A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15092136



Internal ID5093952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:87833153..87954098hg38UCSC Ensembl
chr14:88299497..88420442hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38120946
hg19120946
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635266
Supporting Variants
SamplesNA12716
Known GenesGALC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15092136
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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