A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7523396



Internal ID10801678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13899389..13899884hg38UCSC Ensembl
Outerchr12:14052323..14052818hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3253829
Supporting Variants
SamplesHuRef
Known GenesGRIN2B
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7523396
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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