A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594349



Internal ID6634625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218756892..218789452hg38UCSC Ensembl
Innerchr2:218756901..218789443hg38UCSC Ensembl
Outerchr2:218756883..218789461hg38UCSC Ensembl
chr2:219621615..219654175hg19UCSC Ensembl
Innerchr2:219621624..219654166hg19UCSC Ensembl
Outerchr2:219621606..219654184hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3832561
hg1932561
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10851602
SamplesHG02699
Known GenesCYP27A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594349
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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