A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672074



Internal ID9591493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:66319441..66325793hg38UCSC Ensembl
Outerchr13:66319284..66325968hg38UCSC Ensembl
Innerchr13:66893573..66899925hg19UCSC Ensembl
Outerchr13:66893416..66900100hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg386685
hg196685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5726637, essv5580176, essv6500304
SamplesNA19107, NA19719, NA18908
Known GenesPCDH9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672074
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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