A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675197



Internal ID9941302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:51974802..51980749hg38UCSC Ensembl
Outerchr4:51974765..51980799hg38UCSC Ensembl
Innerchr4:52840968..52846915hg19UCSC Ensembl
Outerchr4:52840931..52846965hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg386035
hg196035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5597600
SamplesNA18963
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675197
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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