A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10798746



Internal ID4661393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190176323..190184821hg38UCSC Ensembl
Innerchr2:190176334..190184810hg38UCSC Ensembl
Outerchr2:190176312..190184832hg38UCSC Ensembl
chr2:191041049..191049547hg19UCSC Ensembl
Innerchr2:191041060..191049536hg19UCSC Ensembl
Outerchr2:191041038..191049558hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg388499
hg198499
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593750
Supporting Variants
SamplesHG04188
Known GenesC2orf88
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10798746
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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