A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664281



Internal ID9583700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43739501..43740993hg38UCSC Ensembl
chr21:45159382..45160874hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381493
hg191493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6416555, essv5654591, essv6412324, essv6055122, essv5642923, essv5550224, essv5624338, essv5578585, essv6362473, essv5826163, essv5931893, essv6097042, essv5892781, essv6587571, essv5484663, essv5671575, essv5907584, essv6138052, essv5563422, essv6071838
SamplesNA19904, NA20503, HG01353, HG01055, NA11920, HG00245, NA20800, NA19920, NA20521, HG00353, HG00256, NA20770, HG01437, NA20540, NA20814, NA20525, NA19434, HG00123, NA20538, HG00278
Known GenesPDXK
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664281
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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