A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664045



Internal ID9583464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138357756..138358341hg38UCSC Ensembl
chr5:137693445..137694030hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38586
hg19586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6140943, essv5678013, essv6181772
SamplesHG01384, NA12003, NA11829
Known GenesKDM3B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664045
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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