A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678436



Internal ID9597855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88572342..88575939hg38UCSC Ensembl
chr16:88638750..88642347hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg383598
hg193598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5764994, essv5404920, essv5619534, essv5807025, essv5793568, essv5608580, essv6329944, essv6445650, essv5633526, essv6461753, essv5404603
SamplesNA07037, HG00112, NA11918, HG00148, NA12044, NA12282, HG01378, NA12761, HG01113, HG01066, NA19750
Known GenesZC3H18
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678436
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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