A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5469758



Internal ID8447161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:96364963..96366251hg38UCSC Ensembl
Outerchr14:96364806..96366404hg38UCSC Ensembl
Innerchr14:96831300..96832588hg19UCSC Ensembl
Outerchr14:96831143..96832741hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381599
hg191599
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2660133
Supporting Variants
SamplesNA20537
Known GenesGSKIP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5469758
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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