A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677218



Internal ID9943323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39484146..39494554hg38UCSC Ensembl
chr13:40058283..40068691hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3810409
hg1910409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5783238, essv6361637, essv5856628
SamplesNA19002, NA19084, NA18965
Known GenesLHFP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677218
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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