A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594600



Internal ID6634876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230286077..230385943hg38UCSC Ensembl
Innerchr2:230286227..230385793hg38UCSC Ensembl
Outerchr2:230285927..230386093hg38UCSC Ensembl
chr2:231150792..231250658hg19UCSC Ensembl
Innerchr2:231150942..231250508hg19UCSC Ensembl
Outerchr2:231150642..231250808hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3899867
hg1999867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10873599
SamplesHG03160
Known GenesSP140, SP140L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594600
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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