A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672506



Internal ID9938611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4084312..4091274hg38UCSC Ensembl
chr16:4134313..4141275hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg386963
hg196963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6475870, essv6034260, essv5996071, essv5920067, essv5518550, essv6572584, essv5597841, essv6462852, essv5895195
SamplesHG00361, HG01167, HG00282, NA19707, HG00239, HG01047, HG00321, NA12144, HG00375
Known GenesADCY9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672506
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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