A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659029



Internal ID9578448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:91962165..91962322hg38UCSC Ensembl
chr1:92427722..92427879hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6029414, essv6073565, essv5896021, essv6075891, essv6227158, essv5472305
SamplesHG01083, HG01174, HG00319, HG00330, HG00343, HG00345
Known GenesBRDT
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659029
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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