A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441597



Internal ID15288550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130219575..130219589hg38UCSC Ensembl
Innerchr3:130219566..130219598hg38UCSC Ensembl
Outerchr3:130219552..130219612hg38UCSC Ensembl
chr3:129938418..129938432hg19UCSC Ensembl
Innerchr3:129938409..129938441hg19UCSC Ensembl
Outerchr3:129938395..129938455hg19UCSC Ensembl
chr3:131421108..131421122hg18UCSC Ensembl
Innerchr3:131421131..131421099hg18UCSC Ensembl
Outerchr3:131421085..131421145hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38257
hg19257
hg18257
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674991, essv8674992, essv8674993, essv8674994, essv8674990, essv8674995
SamplesNA12891, NA19238, NA19239, NA12878, NA12892, NA19240
Known GenesCOL6A4P2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441597
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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