A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672790



Internal ID9592209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:68128842..68129040hg38UCSC Ensembl
chr1:68594525..68594723hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6445256, essv5881156, essv5776532, essv6033840, essv6127825, essv6481252, essv6061982, essv5891915, essv6447599, essv6191851, essv6122554, essv5508741, essv5711298, essv6364473, essv6312814, essv5441508, essv6042585, essv5984656, essv5563195, essv6007372, essv6074445, essv5519121, essv6377855, essv5966346, essv5655618, essv6253781, essv6367522, essv5729917, essv6592998, essv6152151, essv5966251, essv6178214, essv5606766, essv5536208, essv6466331, essv6110636, essv6477265
SamplesNA19012, NA18595, NA18535, HG01072, HG00437, HG00542, NA18541, NA18546, HG00543, NA18624, NA19054, NA18566, NA18635, NA18622, NA19066, HG00634, HG00662, HG00436, HG00620, HG00629, NA18986, NA19005, HG00560, NA19002, NA18564, NA18988, HG01070, NA18562, NA18582, NA18567, NA18565, NA18548, HG00656, HG00708, NA18549, HG00473, NA18555
Known GenesGNG12-AS1, WLS
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672790
Frequency
Sample Size1151
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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