A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596001



Internal ID6983319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42597231..42599677hg38UCSC Ensembl
Innerchr3:42597257..42599651hg38UCSC Ensembl
Outerchr3:42597205..42599703hg38UCSC Ensembl
chr3:42638723..42641169hg19UCSC Ensembl
Innerchr3:42638749..42641143hg19UCSC Ensembl
Outerchr3:42638697..42641195hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382447
hg192447
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10991764
SamplesNA12872
Known GenesSEC22C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596001
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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