A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647132



Internal ID6687187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44539529..44591271hg38UCSC Ensembl
chr21:45959412..46011152hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3851743
hg1951741
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16334138
SamplesNA19384
Known GenesKRTAP10-1, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, TSPEAR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647132
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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