A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598738



Internal ID6985873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:175129782..175140881hg38UCSC Ensembl
Innerchr3:175129842..175140822hg38UCSC Ensembl
Outerchr3:175129723..175140941hg38UCSC Ensembl
chr3:174847572..174858671hg19UCSC Ensembl
Innerchr3:174847632..174858612hg19UCSC Ensembl
Outerchr3:174847513..174858731hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3811100
hg1911100
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11232281
SamplesNA12776
Known GenesNAALADL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598738
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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