A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660233



Internal ID9579652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44574529..44601269hg38UCSC Ensembl
chr21:45994406..46021184hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3826741
hg1926779
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5809006, essv6591060, essv6163603, essv6269983, essv5792084, essv5740069, essv5981675
SamplesNA20510, NA19783, HG01082, HG01133, HG00276, HG01356, NA19347
Known GenesKRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, TSPEAR
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660233
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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