A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10733839



Internal ID5614078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160324873..160329629hg38UCSC Ensembl
Innerchr2:160324887..160329616hg38UCSC Ensembl
Outerchr2:160324860..160329643hg38UCSC Ensembl
chr2:161181384..161186140hg19UCSC Ensembl
Innerchr2:161181398..161186127hg19UCSC Ensembl
Outerchr2:161181371..161186154hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg384757
hg194757
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593135
Supporting Variants
SamplesNA19042
Known GenesRBMS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10733839
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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