A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11620809



Internal ID6956784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:136045502..136061290hg38UCSC Ensembl
Innerchr4:136045515..136061277hg38UCSC Ensembl
Outerchr4:136045489..136061303hg38UCSC Ensembl
chr4:136966657..136982445hg19UCSC Ensembl
Innerchr4:136966670..136982432hg19UCSC Ensembl
Outerchr4:136966644..136982458hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3815789
hg1915789
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602353
Supporting Variants
SamplesNA21135
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11620809
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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