A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590223



Internal ID6977552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31663706..31800943hg38UCSC Ensembl
Innerchr2:31663856..31800793hg38UCSC Ensembl
Outerchr2:31663556..31801093hg38UCSC Ensembl
chr2:31888775..32026012hg19UCSC Ensembl
Innerchr2:31888925..32025862hg19UCSC Ensembl
Outerchr2:31888625..32026162hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38137238
hg19137238
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10445107, essv10445108
SamplesHG03139, HG02968
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590223
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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