A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8911353



Internal ID14016578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227158767..227158783hg38UCSC Ensembl
Innerchr2:227158769..227158779hg38UCSC Ensembl
Outerchr2:227158755..227158795hg38UCSC Ensembl
chr2:228023483..228023499hg19UCSC Ensembl
Innerchr2:228023485..228023495hg19UCSC Ensembl
Outerchr2:228023471..228023511hg19UCSC Ensembl
chr2:227731727..227731743hg18UCSC Ensembl
Innerchr2:227731739..227731729hg18UCSC Ensembl
Outerchr2:227731715..227731755hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3327714
Supporting Variants
SamplesNA18550
Known GenesCOL4A4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8911353
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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