A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8911502



Internal ID13692072
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 StatusS
Merged Variantsesv3342780
Supporting Variants
SamplesNA18552
Known GenesCNTN4, CNTN4-AS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8911502
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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