A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383143



Internal ID15230114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112243985..112244073hg38UCSC Ensembl
Innerchr2:112243988..112244068hg38UCSC Ensembl
Outerchr2:112243900..112244158hg38UCSC Ensembl
chr2:113001562..113001650hg19UCSC Ensembl
Innerchr2:113001565..113001645hg19UCSC Ensembl
Outerchr2:113001477..113001735hg19UCSC Ensembl
chr2:112718033..112718121hg18UCSC Ensembl
Innerchr2:112718116..112718036hg18UCSC Ensembl
Outerchr2:112717948..112718206hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38228
hg19228
hg18228
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674418
SamplesNA19238
Known GenesZC3H8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383143
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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