A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5546936



Internal ID9550767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:28701294..28707749hg38UCSC Ensembl
Outerchr12:28701257..28707799hg38UCSC Ensembl
Innerchr12:28854227..28860682hg19UCSC Ensembl
Outerchr12:28854190..28860732hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg386543
hg196543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669084
Supporting Variants
SamplesNA19082
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5546936
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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