A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593965



Internal ID6634243
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10820550, essv10820551
SamplesHG03644, HG03885
Known GenesAOX2P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593965
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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