A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673149



Internal ID9939254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:88496967..88503967hg38UCSC Ensembl
Outerchr13:88496930..88504017hg38UCSC Ensembl
Innerchr13:89149222..89156222hg19UCSC Ensembl
Outerchr13:89149185..89156272hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg387088
hg197088
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6369426
SamplesNA19435
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673149
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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