A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591096



Internal ID6978424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65153774..65156789hg38UCSC Ensembl
Innerchr2:65153774..65156789hg38UCSC Ensembl
Outerchr2:65153274..65157289hg38UCSC Ensembl
chr2:65380908..65383923hg19UCSC Ensembl
Innerchr2:65380908..65383923hg19UCSC Ensembl
Outerchr2:65380408..65384423hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg383016
hg193016
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10528475
SamplesHG00448
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591096
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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