A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617421



Internal ID6657616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63048523..63053394hg38UCSC Ensembl
Innerchr8:63048573..63053344hg38UCSC Ensembl
Outerchr8:63048335..63053582hg38UCSC Ensembl
chr8:63961082..63965953hg19UCSC Ensembl
Innerchr8:63961132..63965903hg19UCSC Ensembl
Outerchr8:63960894..63966141hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg384872
hg194872
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13213014, essv13212954, essv13212953, essv13212946, essv13212986, essv13212978, essv13212973, essv13212979, essv13212996, essv13212957, essv13212988, essv13212959, essv13213007, essv13212999, essv13212965, essv13212950, essv13212939, essv13213002, essv13213009, essv13212974, essv13212934, essv13213011, essv13213001, essv13212967, essv13212940, essv13212992, essv13212941, essv13212962, essv13212972, essv13212982, essv13212990, essv13212968, essv13212933, essv13212942, essv13212975, essv13212949, essv13212994, essv13212952, essv13213000, essv13212997, essv13212991, essv13212976, essv13212980, essv13213013, essv13212987, essv13212983, essv13212984, essv13212977, essv13212947, essv13212981, essv13212970, essv13212932, essv13212956, essv13212955, essv13213012, essv13213004, essv13212935, essv13212938, essv13212943, essv13213005, essv13213003, essv13212989, essv13212969, essv13212937, essv13212966, essv13213010, essv13212964, essv13212945, essv13212995, essv13212944, essv13213015, essv13213006, essv13212936, essv13212993, essv13212948, essv13212971, essv13212998, essv13212961, essv13212963, essv13212951, essv13212985, essv13212958, essv13212960, essv13213008
SamplesHG02614, NA19701, HG02339, NA19028, NA19141, HG03484, HG02583, NA18507, HG02836, HG02476, NA19355, HG03297, HG02888, NA20356, HG03069, NA19107, HG02810, NA18923, NA20317, HG02620, HG03370, NA19138, HG03479, NA20287, NA19404, HG03520, NA19917, HG02461, NA18864, HG03267, NA19209, NA19445, HG03394, NA20318, HG02716, HG03120, HG03160, HG03088, HG02678, HG03547, HG02449, NA19391, NA19455, NA18516, HG02450, HG03159, HG02968, HG03202, NA19042, HG03078, NA18912, NA19756, HG02332, NA19160, HG02594, NA19625, HG02568, HG02675, HG01990, HG03064, HG02255, NA19440, HG03240, NA19149, HG03437, NA19434, HG01894, HG01551, NA19334, HG03433, NA19428, HG02317, HG02558, HG02974, NA19102, HG02013, NA19711, HG03470, HG01883, NA19121, NA19030, HG03376, NA18511, HG01886
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617421
Frequency
Sample Size2504
Observed Gain0
Observed Loss84
Observed Complex0
Frequencyn/a


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