A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666306



Internal ID9585725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73373835..73374666hg38UCSC Ensembl
chr17:71369974..71370805hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38832
hg19832
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv565e199
Supporting Variantsessv6006215, essv6477837, essv6074921, essv5658254, essv6284253, essv6023253, essv5798025, essv5850186, essv6200281, essv6493733, essv6506692, essv6320077, essv5545275, essv5566067, essv6543846, essv6259225, essv5658168, essv5834738, essv6205539, essv6523690, essv6366786, essv5875591, essv5750107, essv6342977, essv6343314, essv5927670, essv6422942, essv6217537, essv6025774, essv5799886, essv5489086, essv5466212, essv6567376, essv6064196, essv5613115, essv5635406, essv5480438, essv5450588, essv5587542, essv6560174, essv5621260, essv6348496, essv5867700, essv5621356, essv6359093, essv6249341, essv5951818, essv5897184, essv5576679, essv5494520, essv6470982, essv5698474, essv6298122, essv5925509, essv5711159
SamplesNA18502, NA19204, NA18861, NA18592, NA18508, NA18507, NA18603, NA18504, NA19098, NA18870, NA18526, NA18967, NA19171, NA18519, NA19201, NA19131, NA18942, NA18916, NA18582, NA18571, NA19138, NA18964, NA18949, NA19137, NA19238, NA19207, NA19172, NA18520, NA19239, NA12828, NA18951, NA18605, NA19152, NA18516, NA18871, NA18907, NA18499, NA18856, NA18912, NA18555, NA19160, NA18593, NA18974, NA18542, NA18909, NA18564, NA19240, NA06986, NA18501, NA19093, NA19102, NA18511, NA07000, NA19153, NA18562
Known GenesSDK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666306
Frequency
Sample Size1151
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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