A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658556



Internal ID9577975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39572975..39574334hg38UCSC Ensembl
Outerchr4:39572938..39574384hg38UCSC Ensembl
Innerchr4:39574595..39575954hg19UCSC Ensembl
Outerchr4:39574558..39576004hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381447
hg191447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6092980
SamplesNA19777
Known GenesMIR1273H, SMIM14, UGDH-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658556
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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