A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10597243



Internal ID595317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100289633..100297480hg38UCSC Ensembl
Innerchr2:100289633..100297480hg38UCSC Ensembl
Outerchr2:100289475..100297635hg38UCSC Ensembl
chr2:100906095..100913942hg19UCSC Ensembl
Innerchr2:100906095..100913942hg19UCSC Ensembl
Outerchr2:100905937..100914097hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg387848
hg197848
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591752
Supporting Variants
SamplesHG00260
Known GenesLONRF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10597243
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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