A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304200



Internal ID15151148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38817679..38817680hg38UCSC Ensembl
Innerchr2:38817657..38817702hg38UCSC Ensembl
Outerchr2:38817656..38817703hg38UCSC Ensembl
chr2:39044821..39044822hg19UCSC Ensembl
Innerchr2:39044799..39044844hg19UCSC Ensembl
Outerchr2:39044798..39044845hg19UCSC Ensembl
chr2:38898325..38898326hg18UCSC Ensembl
Innerchr2:38898348..38898303hg18UCSC Ensembl
Outerchr2:38898302..38898349hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg385300
hg195300
hg185300
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7764192
SamplesNA12874
Known GenesDHX57
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304200
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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