A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673135



Internal ID9939240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:28937460..28938559hg38UCSC Ensembl
Outerchr1:28937423..28938609hg38UCSC Ensembl
Innerchr1:29263972..29265071hg19UCSC Ensembl
Outerchr1:29263935..29265121hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381187
hg191187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5662887
SamplesNA18552
Known GenesEPB41
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673135
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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