A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674727



Internal ID9940832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133633548..133635824hg38UCSC Ensembl
chr6:133954686..133956962hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg382277
hg192277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5619901, essv6377645, essv6036712, essv5904618, essv6417562, essv5821520, essv5691778, essv6328763, essv5852819, essv5409961, essv6408635, essv5814574, essv5436678, essv5602664, essv6156580
SamplesHG00626, NA19664, HG01188, HG00449, HG00337, NA19660, HG01350, HG00577, HG00584, HG00583, NA19788, NA19685, NA19785, HG00698, NA19780
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674727
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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