A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5596796



Internal ID9735349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12838809..12953480hg38UCSC Ensembl
Outerchr1:12838775..12953515hg38UCSC Ensembl
Innerchr1:12898662..13013306hg19UCSC Ensembl
Outerchr1:12898628..13013341hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38114741
hg19114714
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678231
Supporting Variants
SamplesNA19661
Known GenesHNRNPCL1, LOC649330, PRAMEF10, PRAMEF2, PRAMEF4, PRAMEF6, PRAMEF7, PRAMEF8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5596796
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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