A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11538331



Internal ID2292940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:93364366..93366268hg38UCSC Ensembl
Innerchr4:93364412..93366222hg38UCSC Ensembl
Outerchr4:93364320..93366314hg38UCSC Ensembl
chr4:94285517..94287419hg19UCSC Ensembl
Innerchr4:94285563..94287373hg19UCSC Ensembl
Outerchr4:94285471..94287465hg19UCSC Ensembl
Cytoband4q22.2
Allele length
AssemblyAllele length
hg381903
hg191903
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601432
Supporting Variants
SamplesHG02050
Known GenesGRID2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11538331
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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