A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663342



Internal ID9582761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:20748774..20749178hg38UCSC Ensembl
chr11:20770320..20770724hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5678189, essv5958301, essv6203093, essv5761420, essv5597280, essv5457000, essv5851936, essv6301114, essv5844762, essv6317931, essv6314880, essv6519481, essv5683949, essv5804649, essv5600889, essv6403548, essv5661814, essv6531919, essv5457807, essv6379602, essv5939772, essv5708043, essv6149717, essv6587040, essv5749739, essv5870944, essv5906395, essv5733853, essv6281486, essv5925805, essv5819395, essv5545124, essv6590605, essv6109093, essv5941191
SamplesNA18502, NA11830, NA19700, NA19703, NA19397, NA18861, NA19399, NA18561, NA18603, NA18486, NA19393, NA19396, NA18550, NA19131, NA11918, NA19313, NA12287, NA19172, NA19901, NA19456, NA11993, NA19247, NA19236, NA18871, NA18981, NA18499, NA18858, NA18945, NA19436, NA19144, NA19428, NA18943, NA19093, NA19102, NA18552
Known GenesNELL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663342
Frequency
Sample Size1151
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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