A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646827



Internal ID7033570
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16310559, essv16310564, essv16310563, essv16310561, essv16310562, essv16310560
SamplesHG01850, HG02050, HG01847, HG04177, HG02127, HG02028
Known GenesKRTAP13-1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646827
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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