A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669232



Internal ID9935337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244839099..244839500hg38UCSC Ensembl
chr1:245002401..245002802hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5617159, essv5580690, essv5679634, essv6275314, essv5409467, essv5913643, essv5956478, essv5569608, essv5463348, essv5399943, essv6281124, essv6544620, essv6409753, essv5698614, essv6536476, essv6512978, essv5926917, essv6134317
SamplesNA18592, NA18599, NA18627, NA18563, HG00501, HG00634, NA18571, HG00419, NA18638, HG00596, HG00701, HG00584, HG00635, HG00473, HG00578, NA18631, HG00472, NA18624
Known GenesCOX20
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669232
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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