A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14395657



Internal ID6579196
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628681
Supporting Variants
SamplesNA20763
Known GenesDERA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14395657
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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