A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6345516



Internal ID9044130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:56117998..56119804hg38UCSC Ensembl
Outerchr14:56117627..56120174hg38UCSC Ensembl
Innerchr14:56584716..56586522hg19UCSC Ensembl
Outerchr14:56584345..56586892hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg382548
hg192548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676142
Supporting Variants
SamplesHG00689
Known GenesPELI2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6345516
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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