A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16263912



Internal ID6265728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14245857..14288102hg38UCSC Ensembl
chr21:15618178..15660423hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3842246
hg1942246
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646425
Supporting Variants
SamplesHG02107
Known GenesABCC13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16263912
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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