A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663986



Internal ID9583405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:177962907..177963403hg38UCSC Ensembl
chr1:177932042..177932538hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38497
hg19497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5580476, essv6138972, essv5689061, essv5431072, essv5639529, essv6503365, essv5487987, essv6582026, essv6490343, essv5635683, essv6581068, essv6305346, essv5633008, essv6109566, essv6128865, essv5454280, essv6465026, essv5608297
SamplesHG00705, NA20299, HG01492, HG00475, HG01461, NA19726, NA19082, NA19725, HG00620, HG01356, NA19720, NA19707, NA19074, HG00590, HG00595, HG01190, HG00608, HG01498
Known GenesSEC16B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663986
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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