A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634523



Internal ID7021326
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15013996
SamplesHG04180
Known GenesTXNDC16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634523
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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