A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16262439



Internal ID1843433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:13916257..13961375hg38UCSC Ensembl
chr21:15288578..15333696hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3845119
hg1945119
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646414
Supporting Variants
SamplesHG01708
Known GenesANKRD20A11P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16262439
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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