A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444904



Internal ID15291856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:163655056..163655110hg38UCSC Ensembl
Innerchr2:163655069..163655095hg38UCSC Ensembl
Outerchr2:163655015..163655149hg38UCSC Ensembl
chr2:164511566..164511620hg19UCSC Ensembl
Innerchr2:164511579..164511605hg19UCSC Ensembl
Outerchr2:164511525..164511659hg19UCSC Ensembl
chr2:164219812..164219866hg18UCSC Ensembl
Innerchr2:164219851..164219825hg18UCSC Ensembl
Outerchr2:164219771..164219905hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38167
hg19167
hg18167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8909382, essv8909380
SamplesNA19257, NA18522
Known GenesFIGN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444904
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer