A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590651



Internal ID6977980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48516966..48520329hg38UCSC Ensembl
Innerchr2:48516967..48520328hg38UCSC Ensembl
Outerchr2:48516965..48520330hg38UCSC Ensembl
chr2:48744105..48747468hg19UCSC Ensembl
Innerchr2:48744106..48747467hg19UCSC Ensembl
Outerchr2:48744104..48747469hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg383364
hg193364
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10493407, essv10493406, essv10493405
SamplesNA18942, NA19007, NA18974
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590651
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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