A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11438818



Internal ID1440634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55400563..55402854hg38UCSC Ensembl
Innerchr4:55400563..55402854hg38UCSC Ensembl
Outerchr4:55400513..55403206hg38UCSC Ensembl
chr4:56266730..56269021hg19UCSC Ensembl
Innerchr4:56266730..56269021hg19UCSC Ensembl
Outerchr4:56266680..56269373hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg382292
hg192292
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600549
Supporting Variants
SamplesHG01924
Known GenesTMEM165
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11438818
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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