A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673264



Internal ID9939369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137668867..137669510hg38UCSC Ensembl
chr5:137004556..137005199hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38644
hg19644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6222191, essv6287593, essv6025609, essv5883439, essv6305180
SamplesHG01462, NA20533, NA12249, HG00117, NA12546
Known GenesKLHL3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673264
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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