A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5806774



Internal ID9697661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51818232..51821838hg38UCSC Ensembl
Outerchr12:51817861..51822208hg38UCSC Ensembl
Innerchr12:52212016..52215622hg19UCSC Ensembl
Outerchr12:52211645..52215992hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384348
hg194348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659984
Supporting Variants
SamplesNA19448
Known GenesFIGNL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5806774
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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