A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593448



Internal ID6633728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176504689..176520785hg38UCSC Ensembl
Innerchr2:176504739..176520735hg38UCSC Ensembl
Outerchr2:176504639..176520835hg38UCSC Ensembl
chr2:177369417..177385513hg19UCSC Ensembl
Innerchr2:177369467..177385463hg19UCSC Ensembl
Outerchr2:177369367..177385563hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3816097
hg1916097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10770142, essv10770143
SamplesHG03808, HG04047
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593448
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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