A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598669



Internal ID6638934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172612012..172681673hg38UCSC Ensembl
Innerchr3:172612162..172681523hg38UCSC Ensembl
Outerchr3:172611862..172681823hg38UCSC Ensembl
chr3:172329802..172399463hg19UCSC Ensembl
Innerchr3:172329952..172399313hg19UCSC Ensembl
Outerchr3:172329652..172399613hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3869662
hg1969662
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11227966
SamplesHG03061
Known GenesNCEH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598669
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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