A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10820551



Internal ID822367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200788849..200792210hg38UCSC Ensembl
Innerchr2:200788881..200792178hg38UCSC Ensembl
Outerchr2:200788817..200792242hg38UCSC Ensembl
chr2:201653572..201656933hg19UCSC Ensembl
Innerchr2:201653604..201656901hg19UCSC Ensembl
Outerchr2:201653540..201656965hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg383362
hg193362
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593965
Supporting Variants
SamplesHG03885
Known GenesAOX2P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10820551
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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