A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672526



Internal ID9591945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30901958..30909669hg38UCSC Ensembl
chr2:31124824..31132535hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg387712
hg197712
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6012205, essv6407739
SamplesNA18567, HG00556
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672526
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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