A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667554



Internal ID9586973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:170717..177473hg38UCSC Ensembl
Outerchr16:170346..177843hg38UCSC Ensembl
Innerchr16:220716..227472hg19UCSC Ensembl
Outerchr16:220345..227842hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg387498
hg197498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6232603, essv5672025, essv6483465, essv5397764, essv6487579, essv6490094, essv5401557, essv6591366, essv6397288, essv6201372, essv6395344, essv5612912, essv5736807, essv5775583, essv5987944, essv5517320, essv6015543, essv5826718, essv5443049
SamplesNA19712, NA19904, NA19819, NA20346, NA20340, NA19914, NA19982, NA20356, NA19917, NA19908, NA19835, NA19703, NA20344, NA19704, NA19707, NA19711, NA19921, NA20289, NA19916
Known GenesHBA1, HBA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667554
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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