A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10485531



Internal ID4438650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45047407..45122684hg38UCSC Ensembl
Innerchr2:45047422..45122669hg38UCSC Ensembl
Outerchr2:45047392..45122699hg38UCSC Ensembl
chr2:45274546..45349823hg19UCSC Ensembl
Innerchr2:45274561..45349808hg19UCSC Ensembl
Outerchr2:45274531..45349838hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3875278
hg1975278
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590573
Supporting Variants
SamplesHG03947
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10485531
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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