A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7767229



Internal ID13223322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30887046..30887047hg38UCSC Ensembl
Innerchr2:30887024..30887069hg38UCSC Ensembl
Outerchr2:30887023..30887070hg38UCSC Ensembl
chr2:31109912..31109913hg19UCSC Ensembl
Innerchr2:31109890..31109935hg19UCSC Ensembl
Outerchr2:31109889..31109936hg19UCSC Ensembl
chr2:30963416..30963417hg18UCSC Ensembl
Innerchr2:30963439..30963394hg18UCSC Ensembl
Outerchr2:30963393..30963440hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38173
hg19173
hg18173
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305584
Supporting Variants
SamplesNA11931
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7767229
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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