A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663393



Internal ID9929498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154185154..154188913hg38UCSC Ensembl
chr1:154157630..154161389hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg383760
hg193760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5466367, essv5409490, essv6035502, essv6454572, essv5839751, essv5823601, essv5693865, essv5675914, essv5434369, essv6039733, essv6251280, essv5956511, essv5553005, essv6146513, essv5710658, essv5699556, essv6346882, essv5616058, essv6106673, essv6470759
SamplesNA19350, NA19382, NA19313, NA19130, NA19372, NA18520, NA19451, HG01124, NA19462, NA19347, NA19327, NA20299, NA18499, NA18523, NA19380, NA20281, NA19468, NA19312, NA19429, NA19346
Known GenesTPM3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663393
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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