A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3342780



Internal ID14843048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2129409..2129430hg38UCSC Ensembl
Innerchr3:2129412..2129427hg38UCSC Ensembl
Outerchr3:2129391..2129448hg38UCSC Ensembl
chr3:2171093..2171114hg19UCSC Ensembl
Innerchr3:2171096..2171111hg19UCSC Ensembl
Outerchr3:2171075..2171132hg19UCSC Ensembl
chr3:2146093..2146114hg18UCSC Ensembl
Innerchr3:2146111..2146096hg18UCSC Ensembl
Outerchr3:2146075..2146132hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38264
hg19264
hg18264
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8911491, essv8911500, essv8911496, essv8911493, essv8911488, essv8911497, essv8911499, essv8911502, essv8911489, essv8911501, essv8911495, essv8911498, essv8911494, essv8911490
SamplesNA18545, NA18953, NA18573, NA18542, NA18638, NA18593, NA19190, NA18558, NA18564, NA18961, NA18582, NA18552, NA18532, NA18980
Known GenesCNTN4, CNTN4-AS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3342780
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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