A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6248887



Internal ID9230461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:81482864..81551444hg38UCSC Ensembl
Outerchr5:81482827..81551494hg38UCSC Ensembl
Innerchr5:80778683..80847263hg19UCSC Ensembl
Outerchr5:80778646..80847313hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3868668
hg1968668
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668722
Supporting Variants
SamplesNA11918
Known GenesSSBP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6248887
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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