A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11271011



Internal ID1272827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191293415..191295877hg38UCSC Ensembl
Innerchr3:191293416..191295877hg38UCSC Ensembl
Outerchr3:191293415..191295878hg38UCSC Ensembl
chr3:191011204..191013666hg19UCSC Ensembl
Innerchr3:191011205..191013666hg19UCSC Ensembl
Outerchr3:191011204..191013667hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg382463
hg192463
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599101
Supporting Variants
SamplesHG03380
Known GenesUTS2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11271011
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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