A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304328



Internal ID14804590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161762227..161762228hg38UCSC Ensembl
Innerchr2:161762126..161762329hg38UCSC Ensembl
Outerchr2:161762125..161762330hg38UCSC Ensembl
chr2:162618737..162618738hg19UCSC Ensembl
Innerchr2:162618636..162618839hg19UCSC Ensembl
Outerchr2:162618635..162618840hg19UCSC Ensembl
chr2:162326983..162326984hg18UCSC Ensembl
Innerchr2:162327085..162326882hg18UCSC Ensembl
Outerchr2:162326881..162327086hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38201
hg19201
hg18201
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7759436
SamplesNA18593
Known GenesSLC4A10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304328
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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