A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16334138



Internal ID6336038
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647132
Supporting Variants
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)essv16334138
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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