A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11082815



Internal ID1284140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99674521..99676959hg38UCSC Ensembl
Innerchr3:99674521..99676959hg38UCSC Ensembl
Outerchr3:99674443..99677030hg38UCSC Ensembl
chr3:99393365..99395803hg19UCSC Ensembl
Innerchr3:99393365..99395803hg19UCSC Ensembl
Outerchr3:99393287..99395874hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg382439
hg192439
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597155
Supporting Variants
SamplesHG01130
Known GenesCOL8A1, MIR548G
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11082815
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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