A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635549



Internal ID7022348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102248491..102294572hg38UCSC Ensembl
Innerchr14:102248991..102294072hg38UCSC Ensembl
Outerchr14:102247491..102295572hg38UCSC Ensembl
chr14:102714828..102760909hg19UCSC Ensembl
Innerchr14:102715328..102760409hg19UCSC Ensembl
Outerchr14:102713828..102761909hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3846082
hg1946082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15109392, essv15109391
SamplesNA19917, NA20504
Known GenesMOK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635549
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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