A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5414600



Internal ID8392003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54008432..54019538hg38UCSC Ensembl
Outerchr12:54008061..54019908hg38UCSC Ensembl
Innerchr12:54402216..54413322hg19UCSC Ensembl
Outerchr12:54401845..54413692hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3811848
hg1911848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672088
Supporting Variants
SamplesHG00269
Known GenesHOXC4, HOXC5, HOXC6, HOXC8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5414600
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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