A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664046



Internal ID9930151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15160438..15164967hg38UCSC Ensembl
chr1:15486934..15491463hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg384530
hg194530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6211506, essv5998459, essv6165781, essv6539898, essv5981893, essv5618394
SamplesNA19466, NA19373, HG01198, NA20282, HG01108, NA19102
Known GenesC1orf195, TMEM51
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664046
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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