A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590281



Internal ID6630568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33350232..33357119hg38UCSC Ensembl
Innerchr2:33350232..33357119hg38UCSC Ensembl
Outerchr2:33349732..33357619hg38UCSC Ensembl
chr2:33575299..33582186hg19UCSC Ensembl
Innerchr2:33575299..33582186hg19UCSC Ensembl
Outerchr2:33574799..33582686hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg386888
hg196888
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10451026
SamplesHG01932
Known GenesLTBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590281
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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