A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597240



Internal ID6972174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:104123122..104321204hg38UCSC Ensembl
Innerchr3:104123137..104321189hg38UCSC Ensembl
Outerchr3:104123107..104321219hg38UCSC Ensembl
chr3:103841966..104040048hg19UCSC Ensembl
Innerchr3:103841981..104040033hg19UCSC Ensembl
Outerchr3:103841951..104040063hg19UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg38198083
hg19198083
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11091749
SamplesHG04006
Known GenesMIR548A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597240
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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