A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666995



Internal ID9586414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76310157..76310330hg38UCSC Ensembl
chr17:74306238..74306411hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6378766, essv6005238, essv5906307, essv6110033, essv5428079, essv6569223, essv6537353, essv6013326, essv6589690, essv5625327, essv6361257, essv5664105, essv5890157, essv6397018, essv6456743, essv6252773, essv5819361, essv6444754, essv5757117, essv5848121, essv5862671, essv5910272, essv6027342, essv5667143, essv6296309, essv6452721, essv5870030, essv6057388, essv5747053, essv5984916, essv5963456, essv6472368
SamplesNA19394, NA19359, NA12004, NA18596, NA19381, NA19382, NA18635, HG01354, NA18571, NA12761, HG00277, HG01069, NA19371, NA19385, NA18520, NA18557, NA19391, HG00475, HG00436, HG00533, NA18948, HG00651, HG00479, HG01383, NA18523, NA19147, NA19360, NA18610, NA19093, NA18636, HG00472, NA18624
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666995
Frequency
Sample Size1151
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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