A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10899557



Internal ID901373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2278978..2287511hg38UCSC Ensembl
Innerchr3:2279004..2287486hg38UCSC Ensembl
Outerchr3:2278953..2287537hg38UCSC Ensembl
chr3:2320662..2329195hg19UCSC Ensembl
Innerchr3:2320688..2329170hg19UCSC Ensembl
Outerchr3:2320637..2329221hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg388534
hg198534
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595024
Supporting Variants
SamplesHG03867
Known GenesCNTN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10899557
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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