A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666267



Internal ID9932372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205647158..205648089hg38UCSC Ensembl
chr1:205616286..205617217hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38932
hg19932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6048355, essv6350113, essv6258743, essv6285026, essv6548479, essv5660819, essv6386759, essv6345879, essv5399173, essv5891933, essv5972895, essv6267321, essv6508827, essv6573701, essv5793421, essv5933177, essv5553486, essv5430898, essv6246121, essv5720267, essv5558227, essv6568073, essv6510147
SamplesNA19394, NA19703, NA18486, NA19393, NA19920, NA19446, NA19374, NA18519, NA20287, NA19904, NA18868, NA19189, NA19456, NA19445, NA19707, NA18910, NA18853, NA19390, NA18501, HG01055, NA19900, NA18505, NA19312
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666267
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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