A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6543247



Internal ID9520650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31890679..31894761hg38UCSC Ensembl
chr5:31890785..31894867hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg384083
hg194083
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662404
Supporting Variants
SamplesNA07037
Known GenesPDZD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6543247
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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