A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16310568



Internal ID5585013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:30431384..30451651hg38UCSC Ensembl
chr21:31803702..31823969hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3820268
hg1920268
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646829
Supporting Variants
SamplesNA19026
Known GenesKRTAP15-1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16310568
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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