A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652199



Internal ID15102223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238776411..238777696hg38UCSC Ensembl
Innerchr2:238776411..238777696hg38UCSC Ensembl
Outerchr2:238776046..238778174hg38UCSC Ensembl
chr2:239685052..239686337hg19UCSC Ensembl
Innerchr2:239685052..239686337hg19UCSC Ensembl
Outerchr2:239684687..239686815hg19UCSC Ensembl
chr2:239349792..239351077hg18UCSC Ensembl
Innerchr2:239349792..239351077hg18UCSC Ensembl
Outerchr2:239349426..239351555hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381286
hg191286
hg181286
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3368088
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652199
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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