A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670844



Internal ID9590263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42715445..42719680hg38UCSC Ensembl
chr21:44135555..44139790hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384236
hg194236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6546499, essv6289740, essv6104122, essv5929026, essv5747698, essv6454720, essv6222106, essv5585368, essv5460270, essv5851372, essv5656951, essv6479536, essv6406450, essv5996682, essv5482399, essv5666109
SamplesNA20783, NA20532, HG00244, HG00327, HG00641, HG01177, NA11930, HG00159, HG00268, HG00380, NA20521, NA20828, HG00638, NA20289, HG00377, NA07056
Known GenesPDE9A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670844
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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