A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5953931



Internal ID9105955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78885009..78885147hg38UCSC Ensembl
Outerchr5:78884972..78885197hg38UCSC Ensembl
Innerchr5:78180832..78180970hg19UCSC Ensembl
Outerchr5:78180795..78181020hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2677370
Supporting Variants
SamplesHG01101
Known GenesARSB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5953931
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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