A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11030947



Internal ID1032763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:67307079..67415157hg38UCSC Ensembl
Innerchr3:67307079..67415157hg38UCSC Ensembl
Outerchr3:67306579..67415657hg38UCSC Ensembl
chr3:67357503..67465581hg19UCSC Ensembl
Innerchr3:67357503..67465581hg19UCSC Ensembl
Outerchr3:67357003..67466081hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38108079
hg19108079
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596456
Supporting Variants
SamplesHG02464
Known GenesSUCLG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11030947
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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