A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674995



Internal ID13718749
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 StatusS
Merged Variantsesv3441597
Supporting Variants
SamplesNA12892
Known GenesCOL6A4P2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674995
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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