A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672503



Internal ID9938608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39418045..39418779hg38UCSC Ensembl
chr21:40789971..40790705hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38735
hg19735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5956131, essv5937817, essv6403816, essv6549283, essv6095639, essv5888639, essv5817262, essv5896008, essv6546014, essv5634503, essv5620117, essv5852013, essv6004667
SamplesHG00542, NA18635, HG00610, NA19087, HG00427, NA18614, HG00543, HG00500, NA18548, HG00531, NA18532, NA18610, NA19074
Known GenesLCA5L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672503
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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