A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10597850



Internal ID3064687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101933207..101955476hg38UCSC Ensembl
Innerchr2:101933242..101955441hg38UCSC Ensembl
Outerchr2:101933172..101955511hg38UCSC Ensembl
chr2:102549669..102571938hg19UCSC Ensembl
Innerchr2:102549704..102571903hg19UCSC Ensembl
Outerchr2:102549634..102571973hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3822270
hg1922270
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591777
Supporting Variants
SamplesHG02691
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10597850
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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