A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590763



Internal ID6978091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:51460354..51557153hg38UCSC Ensembl
Innerchr2:51460387..51557120hg38UCSC Ensembl
Outerchr2:51460321..51557186hg38UCSC Ensembl
chr2:51687492..51784291hg19UCSC Ensembl
Innerchr2:51687525..51784258hg19UCSC Ensembl
Outerchr2:51687459..51784324hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3896800
hg1996800
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv695e214
Supporting Variantsessv10503626
SamplesHG02804
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590763
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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