A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731376



Internal ID13627172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232575241..232575300hg38UCSC Ensembl
Innerchr2:232575270..232575271hg38UCSC Ensembl
Outerchr2:232575141..232575400hg38UCSC Ensembl
chr2:233439951..233440010hg19UCSC Ensembl
Innerchr2:233439980..233439981hg19UCSC Ensembl
Outerchr2:233439851..233440110hg19UCSC Ensembl
chr2:233148195..233148254hg18UCSC Ensembl
Innerchr2:233148225..233148224hg18UCSC Ensembl
Outerchr2:233148095..233148354hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302484
Supporting Variants
SamplesNA12878
Known GenesEIF4E2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731376
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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