A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647000



Internal ID7033742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38279150..38283195hg38UCSC Ensembl
Innerchr21:38279150..38283195hg38UCSC Ensembl
Outerchr21:38278746..38283454hg38UCSC Ensembl
chr21:39651072..39655117hg19UCSC Ensembl
Innerchr21:39651072..39655117hg19UCSC Ensembl
Outerchr21:39650668..39655376hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg384046
hg194046
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16320695, essv16320692, essv16320700, essv16320699, essv16320697, essv16320684, essv16320689, essv16320694, essv16320691, essv16320685, essv16320690, essv16320693, essv16320701, essv16320698, essv16320688, essv16320687, essv16320696, essv16320686
SamplesHG02433, HG02891, HG03521, NA19920, HG03105, HG02571, HG02009, HG02943, HG03363, HG03291, NA18871, NA18907, NA18879, HG01988, NA19117, HG02053, HG02052, HG01509
Known GenesKCNJ15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647000
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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