A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10873599



Internal ID875415
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594600
Supporting Variants
SamplesHG03160
Known GenesSP140, SP140L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10873599
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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