A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675138



Internal ID9941243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:56674574..57110392hg38UCSC Ensembl
Outerchr7:56674540..57110427hg38UCSC Ensembl
Innerchr7:56742267..57178099hg19UCSC Ensembl
Outerchr7:56742233..57178134hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38435888
hg19435902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5684934
SamplesHG01070
Known GenesLOC100130849, MIR4283-1, MIR4283-2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675138
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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