A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15013996



Internal ID4648745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52484695..52510143hg38UCSC Ensembl
Innerchr14:52485195..52509643hg38UCSC Ensembl
Outerchr14:52483695..52511143hg38UCSC Ensembl
chr14:52951413..52976861hg19UCSC Ensembl
Innerchr14:52951913..52976361hg19UCSC Ensembl
Outerchr14:52950413..52977861hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3825449
hg1925449
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634523
Supporting Variants
SamplesHG04180
Known GenesTXNDC16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15013996
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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