A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6491370



Internal ID9468773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24303819..24306370hg38UCSC Ensembl
Outerchr12:24303782..24306420hg38UCSC Ensembl
Innerchr12:24456753..24459304hg19UCSC Ensembl
Outerchr12:24456716..24459354hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg382639
hg192639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676176
Supporting Variants
SamplesNA19684
Known GenesSOX5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6491370
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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