A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634750



Internal ID7021551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64263896..64286173hg38UCSC Ensembl
Innerchr14:64263896..64286173hg38UCSC Ensembl
Outerchr14:64263396..64286673hg38UCSC Ensembl
chr14:64730614..64752891hg19UCSC Ensembl
Innerchr14:64730614..64752891hg19UCSC Ensembl
Outerchr14:64730114..64753391hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3822278
hg1922278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15040766
SamplesNA20517
Known GenesESR2, MIR548AZ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634750
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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