A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16310559



Internal ID1990662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:30376036..30415256hg38UCSC Ensembl
chr21:31748354..31787574hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3839221
hg1939221
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646827
Supporting Variants
SamplesHG01847
Known GenesKRTAP13-1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16310559
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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