A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590588



Internal ID6630874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45517829..45521493hg38UCSC Ensembl
Innerchr2:45517829..45521493hg38UCSC Ensembl
Outerchr2:45517639..45521712hg38UCSC Ensembl
chr2:45744968..45748632hg19UCSC Ensembl
Innerchr2:45744968..45748632hg19UCSC Ensembl
Outerchr2:45744778..45748851hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383665
hg193665
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10486642, essv10486643, essv10486641
SamplesHG03202, NA19160, HG03369
Known GenesSRBD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590588
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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