A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7115025



Internal ID10393307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:9406168..9406560hg38UCSC Ensembl
Outerchr2:9546297..9546689hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2845458
Supporting Variants
SamplesHuRef
Known GenesITGB1BP1
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7115025
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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