A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5559506



Internal ID9200686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31344670..31344844hg38UCSC Ensembl
chr14:31813876..31814050hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2664691
Supporting Variants
SamplesHG01518
Known GenesHEATR5A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5559506
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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