A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589732



Internal ID6977061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:6749542..6762640hg38UCSC Ensembl
Innerchr2:6749566..6762617hg38UCSC Ensembl
Outerchr2:6749519..6762664hg38UCSC Ensembl
chr2:6889673..6902771hg19UCSC Ensembl
Innerchr2:6889697..6902748hg19UCSC Ensembl
Outerchr2:6889650..6902795hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3813099
hg1913099
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10403800
SamplesHG02982
Known GenesLINC00487
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589732
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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