A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693510



Internal ID15036214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232898598..232900796hg38UCSC Ensembl
Innerchr2:232899598..232899796hg38UCSC Ensembl
Outerchr2:232897598..232901796hg38UCSC Ensembl
chr2:233763308..233765506hg19UCSC Ensembl
Innerchr2:233764308..233764506hg19UCSC Ensembl
Outerchr2:233762308..233766506hg19UCSC Ensembl
chr2:233471552..233473750hg18UCSC Ensembl
Innerchr2:233472552..233472750hg18UCSC Ensembl
Outerchr2:233470552..233474750hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3412327
Supporting Variants
SamplesNA19238
Known GenesNGEF
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693510
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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