A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11066218



Internal ID585737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:88099538..88102451hg38UCSC Ensembl
Innerchr3:88099559..88102431hg38UCSC Ensembl
Outerchr3:88099518..88102472hg38UCSC Ensembl
chr3:88148688..88151601hg19UCSC Ensembl
Innerchr3:88148709..88151581hg19UCSC Ensembl
Outerchr3:88148668..88151622hg19UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg382914
hg192914
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596912
Supporting Variants
SamplesHG00257
Known GenesCGGBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11066218
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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