A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672751



Internal ID9938856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:134966592..134966939hg38UCSC Ensembl
chr6:135287730..135288077hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5422221, essv6351474, essv6043592, essv6502654, essv6438572, essv6190508, essv6281419, essv5984728, essv5718523, essv6468912, essv6148532, essv5797733, essv5457198
SamplesNA19914, NA18510, NA19457, NA19384, NA19172, NA19451, NA18605, NA19391, NA18856, NA19428, NA18501, NA19116, NA18505
Known GenesHBS1L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672751
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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