A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759643



Internal ID18733889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208225566..208232713hg38UCSC Ensembl
Outerchr2:208225557..208232747hg38UCSC Ensembl
Innerchr2:209090290..209097437hg19UCSC Ensembl
Outerchr2:209090281..209097471hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg387191
hg197191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560896
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759643
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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