A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995178



Internal ID6731128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113130531..113130702hg38UCSC Ensembl
chr2:113888108..113888279hg19UCSC Ensembl
chr2:113604579..113604750hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38172
hg19172
hg18172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3581393
SamplesHuRef
Known GenesIL1RN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995178
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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