A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628681



Internal ID7015505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15927632..15935728hg38UCSC Ensembl
Innerchr12:15927644..15935716hg38UCSC Ensembl
Outerchr12:15927620..15935740hg38UCSC Ensembl
chr12:16080566..16088662hg19UCSC Ensembl
Innerchr12:16080578..16088650hg19UCSC Ensembl
Outerchr12:16080554..16088674hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg388097
hg198097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14395657
SamplesNA20763
Known GenesDERA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628681
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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