A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304050



Internal ID14804312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38121661..38121662hg38UCSC Ensembl
Innerchr21:38121555..38121768hg38UCSC Ensembl
Outerchr21:38121554..38121769hg38UCSC Ensembl
chr21:39493755..39493756hg19UCSC Ensembl
Innerchr21:39493649..39493862hg19UCSC Ensembl
Outerchr21:39493648..39493863hg19UCSC Ensembl
chr21:38415625..38415626hg18UCSC Ensembl
Innerchr21:38415732..38415519hg18UCSC Ensembl
Outerchr21:38415518..38415733hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38136
hg19136
hg18136
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7743534, essv7740682, essv7754379, essv7748390, essv7759677, essv7758924, essv7751690, essv7754468, essv7753665, essv7749671, essv7757545, essv7752588, essv7745832, essv7755578, essv7760755, essv7747048, essv7760456, essv7752193, essv7740402, essv7752857, essv7741622, essv7754760, essv7755163
SamplesNA18502, NA18861, NA10851, NA11931, NA19005, NA18942, NA11831, NA18951, NA12489, NA19114, NA18523, NA18945, NA19108, NA18943, NA07037, NA06986, NA12749, NA19093, NA18505, NA19129, NA12006, NA12154, NA12776
Known GenesDSCR8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304050
Frequency
Sample Size185
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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