A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6004628



Internal ID8982031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45517815..45517911hg38UCSC Ensembl
chr1:45983487..45983583hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2665399
Supporting Variants
SamplesNA18612
Known GenesPRDX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6004628
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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