A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672414



Internal ID9938519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100553169..100556509hg38UCSC Ensembl
chr13:101205423..101208763hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg383341
hg193341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv377e199
Supporting Variantsessv6465690, essv5444260, essv5843776, essv6464709, essv5865522
SamplesHG00671, NA19088, NA19059, HG00580, NA18984
Known GenesGGACT
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672414
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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