A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5603907



Internal ID8581310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214534513..214535561hg38UCSC Ensembl
Outerchr1:214534476..214535611hg38UCSC Ensembl
Innerchr1:214707856..214708904hg19UCSC Ensembl
Outerchr1:214707819..214708954hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381136
hg191136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669067
Supporting Variants
SamplesHG01082
Known GenesPTPN14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5603907
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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