A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589724



Internal ID6977053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:6434507..6462922hg38UCSC Ensembl
Innerchr2:6434529..6462901hg38UCSC Ensembl
Outerchr2:6434486..6462944hg38UCSC Ensembl
chr2:6574639..6603054hg19UCSC Ensembl
Innerchr2:6574661..6603033hg19UCSC Ensembl
Outerchr2:6574618..6603076hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3828416
hg1928416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10403221
SamplesHG02190
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589724
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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