A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669044



Internal ID9935149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74671191..74671296hg38UCSC Ensembl
chr1:75136875..75136980hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5786020, essv5841826, essv5513015, essv6184769, essv5899949, essv5410066, essv6461415, essv5592648, essv6408829, essv5872841, essv6052463, essv6409747, essv6341032, essv5450472, essv6281588, essv6032522, essv6545504, essv6047373
SamplesHG01060, NA18602, HG00327, NA19404, HG00281, HG00323, HG00260, HG00137, NA18613, HG00268, HG00475, HG00479, HG00246, HG00254, NA18559, HG00319, NA18623, NA18620
Known GenesC1orf173
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669044
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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