A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5996871



Internal ID8974274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:150772343..150776313hg38UCSC Ensembl
Outerchr4:150772306..150776363hg38UCSC Ensembl
Innerchr4:151693495..151697465hg19UCSC Ensembl
Outerchr4:151693458..151697515hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg384058
hg194058
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663167
Supporting Variants
SamplesNA19474
Known GenesLRBA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5996871
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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