A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6172762



Internal ID9741857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110458296..110458664hg38UCSC Ensembl
Outerchr13:110458259..110458714hg38UCSC Ensembl
Innerchr13:111110643..111111011hg19UCSC Ensembl
Outerchr13:111110606..111111061hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38456
hg19456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2674221
Supporting Variants
SamplesNA19678
Known GenesCOL4A2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6172762
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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