A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5870992



Internal ID8848395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:150271538..150271554hg38UCSC Ensembl
Outerchr4:150271381..150271707hg38UCSC Ensembl
Innerchr4:151192690..151192706hg19UCSC Ensembl
Outerchr4:151192533..151192859hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2669383
Supporting Variants
SamplesHG00323
Known GenesLRBA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5870992
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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