A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8909446



Internal ID13221446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172798640..172798670hg38UCSC Ensembl
Innerchr2:172798654..172798654hg38UCSC Ensembl
Outerchr2:172798626..172798684hg38UCSC Ensembl
chr2:173663368..173663398hg19UCSC Ensembl
Innerchr2:173663382..173663382hg19UCSC Ensembl
Outerchr2:173663354..173663412hg19UCSC Ensembl
chr2:173371614..173371644hg18UCSC Ensembl
Innerchr2:173371628..173371628hg18UCSC Ensembl
Outerchr2:173371600..173371658hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3327085
Supporting Variants
SamplesNA12763
Known GenesRAPGEF4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8909446
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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