A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306813



Internal ID15153761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227158773..227158774hg38UCSC Ensembl
Innerchr2:227158744..227158803hg38UCSC Ensembl
Outerchr2:227158743..227158804hg38UCSC Ensembl
chr2:228023489..228023490hg19UCSC Ensembl
Innerchr2:228023460..228023519hg19UCSC Ensembl
Outerchr2:228023459..228023520hg19UCSC Ensembl
chr2:227731733..227731734hg18UCSC Ensembl
Innerchr2:227731763..227731704hg18UCSC Ensembl
Outerchr2:227731703..227731764hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38290
hg19290
hg18290
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7753326, essv7751970, essv7741987, essv7762681, essv7761097
SamplesNA07346, NA18550, NA18547, NA19099, NA12716
Known GenesCOL4A4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306813
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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