A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594611



Internal ID6634887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230756398..230759325hg38UCSC Ensembl
Innerchr2:230756403..230759321hg38UCSC Ensembl
Outerchr2:230756394..230759330hg38UCSC Ensembl
chr2:231621113..231624040hg19UCSC Ensembl
Innerchr2:231621118..231624036hg19UCSC Ensembl
Outerchr2:231621109..231624045hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg382928
hg192928
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10875225
SamplesHG04188
Known GenesCAB39
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594611
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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