A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10708782



Internal ID2829568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:149103909..149114112hg38UCSC Ensembl
Innerchr2:149103919..149114103hg38UCSC Ensembl
Outerchr2:149103900..149114122hg38UCSC Ensembl
chr2:149960423..149970626hg19UCSC Ensembl
Innerchr2:149960433..149970617hg19UCSC Ensembl
Outerchr2:149960414..149970636hg19UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg3810204
hg1910204
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592856
Supporting Variants
SamplesHG02494
Known GenesLYPD6B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10708782
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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