A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10899566



Internal ID901382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2385160..2386303hg38UCSC Ensembl
Innerchr3:2385160..2386303hg38UCSC Ensembl
Outerchr3:2384890..2386589hg38UCSC Ensembl
chr3:2426844..2427987hg19UCSC Ensembl
Innerchr3:2426844..2427987hg19UCSC Ensembl
Outerchr3:2426574..2428273hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg381144
hg191144
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595028
Supporting Variants
SamplesHG00356
Known GenesCNTN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10899566
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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