A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6348301



Internal ID9325704
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 Flag1
Merged StatusS
Merged Variantsesv2669442
Supporting Variants
SamplesHG00699
Known GenesEDNRB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6348301
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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