A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597312



Internal ID6984540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:107638153..107640694hg38UCSC Ensembl
Innerchr3:107638153..107640694hg38UCSC Ensembl
Outerchr3:107637941..107640976hg38UCSC Ensembl
chr3:107357000..107359541hg19UCSC Ensembl
Innerchr3:107357000..107359541hg19UCSC Ensembl
Outerchr3:107356788..107359823hg19UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg382542
hg192542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11096581
SamplesHG00245
Known GenesBBX
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597312
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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