A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3338824



Internal ID14839094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38121682..38121739hg38UCSC Ensembl
Innerchr21:38121668..38121753hg38UCSC Ensembl
Outerchr21:38121611..38121810hg38UCSC Ensembl
chr21:39493776..39493833hg19UCSC Ensembl
Innerchr21:39493762..39493847hg19UCSC Ensembl
Outerchr21:39493705..39493904hg19UCSC Ensembl
chr21:38415646..38415703hg18UCSC Ensembl
Innerchr21:38415717..38415632hg18UCSC Ensembl
Outerchr21:38415575..38415774hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38136
hg19136
hg18136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8977349, essv8977352, essv8977350, essv8977364, essv8977360, essv8977351, essv8977373, essv8977369, essv8977353, essv8977356, essv8977354, essv8977358, essv8977355, essv8977367, essv8977372, essv8977363, essv8977357, essv8977368, essv8977371, essv8977361, essv8977362, essv8977366, essv8977365
SamplesNA12154, NA12489, NA18861, NA07037, NA18951, NA18523, NA19114, NA19093, NA11931, NA12776, NA19108, NA18505, NA18943, NA11831, NA12006, NA19129, NA06986, NA19005, NA18502, NA18942, NA18945, NA10851, NA12749
Known GenesDSCR8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3338824
Frequency
Sample Size185
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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