A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11040014



Internal ID2243974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:74353599..74358014hg38UCSC Ensembl
Innerchr3:74353749..74357864hg38UCSC Ensembl
Outerchr3:74353449..74358164hg38UCSC Ensembl
chr3:74402750..74407165hg19UCSC Ensembl
Innerchr3:74402900..74407015hg19UCSC Ensembl
Outerchr3:74402600..74407315hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg384416
hg194416
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596573
Supporting Variants
SamplesHG02012
Known GenesCNTN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11040014
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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