A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7795338



Internal ID14358017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30447109..30447110hg38UCSC Ensembl
Innerchr2:30447091..30447128hg38UCSC Ensembl
Outerchr2:30447090..30447129hg38UCSC Ensembl
chr2:30669975..30669976hg19UCSC Ensembl
Innerchr2:30669957..30669994hg19UCSC Ensembl
Outerchr2:30669956..30669995hg19UCSC Ensembl
chr2:30523479..30523480hg18UCSC Ensembl
Innerchr2:30523498..30523461hg18UCSC Ensembl
Outerchr2:30523460..30523499hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38296
hg19296
hg18296
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307139
Supporting Variants
SamplesNA18856
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7795338
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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