A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3581393



Internal ID6706089
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv995178
Supporting Variants
SamplesHuRef
Known GenesIL1RN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3581393
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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