A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11494239



Internal ID1935498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70361841..70384178hg38UCSC Ensembl
Innerchr4:70361841..70384178hg38UCSC Ensembl
Outerchr4:70361341..70384678hg38UCSC Ensembl
chr4:71227558..71249895hg19UCSC Ensembl
Innerchr4:71227558..71249895hg19UCSC Ensembl
Outerchr4:71227058..71250395hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3822338
hg1922338
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600933
Supporting Variants
SamplesHG01802
Known GenesSMR3A, SMR3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11494239
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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