A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8911412



Internal ID14649856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231457389..231457427hg38UCSC Ensembl
Innerchr2:231457388..231457426hg38UCSC Ensembl
Outerchr2:231457350..231457464hg38UCSC Ensembl
chr2:232322100..232322138hg19UCSC Ensembl
Innerchr2:232322099..232322137hg19UCSC Ensembl
Outerchr2:232322061..232322175hg19UCSC Ensembl
chr2:232030344..232030382hg18UCSC Ensembl
Innerchr2:232030381..232030343hg18UCSC Ensembl
Outerchr2:232030305..232030419hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38271
hg19271
hg18271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3423511
Supporting Variants
SamplesNA19210
Known GenesNCL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8911412
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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