A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671242



Internal ID9937347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:36158592..36166447hg38UCSC Ensembl
Outerchr1:36158435..36166600hg38UCSC Ensembl
Innerchr1:36624193..36632048hg19UCSC Ensembl
Outerchr1:36624036..36632201hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg388166
hg198166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5829476
SamplesHG01067
Known GenesMAP7D1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671242
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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