A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11641045



Internal ID6347446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:144566225..144595767hg38UCSC Ensembl
Innerchr4:144566725..144595267hg38UCSC Ensembl
Outerchr4:144565225..144596767hg38UCSC Ensembl
chr4:145487377..145516919hg19UCSC Ensembl
Innerchr4:145487877..145516419hg19UCSC Ensembl
Outerchr4:145486377..145517919hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3829543
hg1929543
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602547
Supporting Variants
SamplesNA20276
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11641045
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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