A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667717



Internal ID9933822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78628856..78634363hg38UCSC Ensembl
chr13:79202991..79208498hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg385508
hg195508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6163700, essv5399739, essv6018111, essv6073336, essv5561739, essv5745790, essv5925067, essv6509493, essv6578425, essv5924695, essv5408361, essv5938142, essv6201891
SamplesNA18947, NA18592, HG00524, NA18545, HG00501, HG00448, NA18977, NA18544, HG00560, NA18948, NA19064, NA18570, NA18608
Known GenesRNF219
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667717
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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