A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677907



Internal ID9944012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:86215133..86219139hg38UCSC Ensembl
Outerchr1:86214762..86219509hg38UCSC Ensembl
Innerchr1:86680816..86684822hg19UCSC Ensembl
Outerchr1:86680445..86685192hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg384748
hg194748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6217140, essv5786185, essv6372004, essv5964070, essv5738063, essv5688169, essv6445819
SamplesNA20539, NA20775, NA20753, NA20801, NA20504, NA20797, NA20502
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677907
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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