A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10574520



Internal ID576336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:88694856..88697188hg38UCSC Ensembl
Innerchr2:88694906..88697138hg38UCSC Ensembl
Outerchr2:88694806..88697238hg38UCSC Ensembl
chr2:88994374..88996706hg19UCSC Ensembl
Innerchr2:88994424..88996656hg19UCSC Ensembl
Outerchr2:88994324..88996756hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg382333
hg192333
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591594
Supporting Variants
SamplesNA18550
Known GenesRPIA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10574520
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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