A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669442



Internal ID9588861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:77929577..77935331hg38UCSC Ensembl
Outerchr13:77929420..77935484hg38UCSC Ensembl
Innerchr13:78503712..78509466hg19UCSC Ensembl
Outerchr13:78503555..78509619hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg386065
hg196065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6348301, essv6007755
SamplesHG00699, HG00580
Known GenesEDNRB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669442
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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