A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10851602



Internal ID853418
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594349
Supporting Variants
SamplesHG02699
Known GenesCYP27A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10851602
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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