A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11397842



Internal ID379654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:38978290..38979415hg38UCSC Ensembl
Innerchr4:38978298..38979408hg38UCSC Ensembl
Outerchr4:38978283..38979423hg38UCSC Ensembl
chr4:38979910..38981035hg19UCSC Ensembl
Innerchr4:38979918..38981028hg19UCSC Ensembl
Outerchr4:38979903..38981043hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381126
hg191126
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600270
Supporting Variants
SamplesHG00110
Known GenesTMEM156
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11397842
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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