A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6470119



Internal ID9447522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161151226..161153732hg38UCSC Ensembl
Outerchr1:161150855..161154102hg38UCSC Ensembl
Innerchr1:161121016..161123522hg19UCSC Ensembl
Outerchr1:161120645..161123892hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg383248
hg193248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657506
Supporting Variants
SamplesHG00536
Known GenesUFC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6470119
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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