A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673781



Internal ID9939886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38644783..38655263hg38UCSC Ensembl
chr2:38871925..38882405hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3810481
hg1910481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6498725, essv6387139, essv5672153, essv5710059, essv5831324, essv5655149, essv5630994, essv6306641, essv5832817
SamplesNA19446, NA19381, NA19189, NA18908, NA19462, NA19982, NA18909, NA19712, NA19093
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673781
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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