A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677000



Internal ID9943105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3319779..3320736hg38UCSC Ensembl
Outerchr4:3319729..3320790hg38UCSC Ensembl
Innerchr4:3321506..3322463hg19UCSC Ensembl
Outerchr4:3321456..3322517hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381062
hg191062
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6482140, essv6452890
SamplesHG00608, NA18576
Known GenesRGS12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677000
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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