A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646794



Internal ID7033537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29100737..29111625hg38UCSC Ensembl
Innerchr21:29100748..29111615hg38UCSC Ensembl
Outerchr21:29100727..29111636hg38UCSC Ensembl
chr21:30473058..30483946hg19UCSC Ensembl
Innerchr21:30473069..30483936hg19UCSC Ensembl
Outerchr21:30473048..30483957hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3810889
hg1910889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16307732, essv16307731, essv16307733, essv16307730
SamplesHG04229, HG02691, NA21129, HG03727
Known GenesMAP3K7CL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646794
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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