A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593127



Internal ID6633407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160118835..160132620hg38UCSC Ensembl
Innerchr2:160118835..160132620hg38UCSC Ensembl
Outerchr2:160118335..160133120hg38UCSC Ensembl
chr2:160975346..160989131hg19UCSC Ensembl
Innerchr2:160975346..160989131hg19UCSC Ensembl
Outerchr2:160974846..160989631hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3813786
hg1913786
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10733118
SamplesHG03052
Known GenesITGB6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593127
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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