A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12553096



Internal ID2554912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131754426..131844936hg38UCSC Ensembl
chr6:132075566..132166076hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3890511
hg1990511
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610819
Supporting Variants
SamplesHG03780
Known GenesENPP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12553096
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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