A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11178372



Internal ID4440204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:148846533..148849677hg38UCSC Ensembl
Innerchr3:148846558..148849653hg38UCSC Ensembl
Outerchr3:148846509..148849702hg38UCSC Ensembl
chr3:148564320..148567464hg19UCSC Ensembl
Innerchr3:148564345..148567440hg19UCSC Ensembl
Outerchr3:148564296..148567489hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg383145
hg193145
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598134
Supporting Variants
SamplesHG03949
Known GenesCPB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11178372
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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