A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593990



Internal ID6981311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201914946..201915646hg38UCSC Ensembl
Innerchr2:201914946..201915646hg38UCSC Ensembl
Outerchr2:201914698..201915808hg38UCSC Ensembl
chr2:202779669..202780369hg19UCSC Ensembl
Innerchr2:202779669..202780369hg19UCSC Ensembl
Outerchr2:202779421..202780531hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10824583, essv10824582, essv10824580, essv10824578, essv10824581, essv10824579
SamplesHG02589, HG03352, HG03267, NA19456, NA19454, NA18488
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593990
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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