A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3424647



Internal ID14924918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2772346..2772360hg38UCSC Ensembl
Innerchr3:2772337..2772367hg38UCSC Ensembl
Outerchr3:2772325..2772381hg38UCSC Ensembl
chr3:2814030..2814044hg19UCSC Ensembl
Innerchr3:2814021..2814051hg19UCSC Ensembl
Outerchr3:2814009..2814065hg19UCSC Ensembl
chr3:2789030..2789044hg18UCSC Ensembl
Innerchr3:2789051..2789021hg18UCSC Ensembl
Outerchr3:2789009..2789065hg18UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8911509, essv8911518, essv8911521, essv8911507, essv8911504, essv8911510, essv8911519, essv8911512, essv8911516, essv8911524, essv8911506, essv8911526, essv8911511, essv8911513, essv8911505, essv8911520, essv8911517, essv8911527, essv8911523, essv8911515, essv8911522, essv8911508
SamplesNA12717, NA18861, NA18592, NA18508, NA18561, NA19190, NA18870, NA18526, NA18519, NA11831, NA18871, NA18572, NA18948, NA19099, NA18555, NA18909, NA18961, NA12763, NA06986, NA18501, NA19093, NA18522
Known GenesCNTN4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3424647
Frequency
Sample Size185
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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