A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11271052



Internal ID1272868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191346901..191353870hg38UCSC Ensembl
Innerchr3:191346901..191353870hg38UCSC Ensembl
Outerchr3:191346505..191354248hg38UCSC Ensembl
chr3:191064690..191071659hg19UCSC Ensembl
Innerchr3:191064690..191071659hg19UCSC Ensembl
Outerchr3:191064294..191072037hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg386970
hg196970
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599104
Supporting Variants
SamplesHG00138
Known GenesCCDC50
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11271052
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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