A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594100



Internal ID6634376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207842205..207844624hg38UCSC Ensembl
Innerchr2:207842205..207844624hg38UCSC Ensembl
Outerchr2:207841977..207844792hg38UCSC Ensembl
chr2:208706929..208709348hg19UCSC Ensembl
Innerchr2:208706929..208709348hg19UCSC Ensembl
Outerchr2:208706701..208709516hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382420
hg192420
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10832802, essv10832803
SamplesHG01694, NA12873
Known GenesPLEKHM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594100
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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