A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634854



Internal ID7021654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70239299..70243170hg38UCSC Ensembl
chr14:70706016..70709887hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg383872
hg193872
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv406e214
Supporting Variantsessv15052655, essv15052652, essv15052654, essv15052658, essv15052659, essv15052656, essv15052653, essv15052660, essv15052651, essv15052657, essv15052650
SamplesHG03687, HG03754, HG03722, HG02505, HG03750, HG04017, HG03778, HG04026, HG03716, HG04056, HG04061
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634854
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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