A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596599



Internal ID6983913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:75374461..75592969hg38UCSC Ensembl
Innerchr3:75374611..75592819hg38UCSC Ensembl
Outerchr3:75374311..75593119hg38UCSC Ensembl
chr3:75423612..75642120hg19UCSC Ensembl
Innerchr3:75423762..75641970hg19UCSC Ensembl
Outerchr3:75423462..75642270hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38218509
hg19218509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11041901, essv11041958, essv11041953, essv11041878, essv11041945, essv11041946, essv11041891, essv11041880, essv11041927, essv11041902, essv11041928, essv11041950, essv11041940, essv11041905, essv11041904, essv11041879, essv11041915, essv11041936, essv11041941, essv11041896, essv11041886, essv11041929, essv11041907, essv11041954, essv11041900, essv11041956, essv11041952, essv11041890, essv11041877, essv11041910, essv11041949, essv11041924, essv11041899, essv11041918, essv11041926, essv11041939, essv11041876, essv11041937, essv11041917, essv11041931, essv11041919, essv11041955, essv11041903, essv11041922, essv11041889, essv11041909, essv11041957, essv11041920, essv11041881, essv11041933, essv11041916, essv11041894, essv11041948, essv11041893, essv11041882, essv11041898, essv11041892, essv11041932, essv11041934, essv11041883, essv11041897, essv11041944, essv11041906, essv11041912, essv11041885, essv11041923, essv11041947, essv11041951, essv11041935, essv11041911, essv11041888, essv11041943, essv11041930, essv11041921, essv11041913, essv11041914, essv11041938, essv11041908, essv11041942, essv11041884, essv11041895, essv11041925, essv11041887
SamplesHG00096, HG00304, HG01773, NA12273, NA11933, HG00257, HG00315, HG02891, HG00367, HG00318, HG01686, NA20517, HG01704, NA20356, HG01513, HG00327, HG00641, HG02312, HG01503, HG01682, NA20586, HG03913, HG01710, HG01761, NA21103, HG01510, NA19782, HG00325, HG02471, NA20845, HG00338, HG01771, HG01133, HG01626, NA20587, HG00365, NA11831, HG00188, NA12872, NA20536, HG00368, HG00320, NA18579, HG02102, HG01675, HG01630, HG01092, NA20525, HG01615, HG00324, HG00284, HG01619, HG00350, NA11894, HG01613, HG01791, NA20282, HG02292, HG01705, NA12144, HG00128, NA12043, HG01148, NA12716, HG03790, NA12272, HG01685, HG01272, HG00278, NA12873, HG02232, NA19779, HG00378, HG00329, HG00342, HG00288, HG01254, HG00112, NA20807, HG00171, HG01886, NA21104, HG00180
Known GenesFAM86DP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596599
Frequency
Sample Size2504
Observed Gain0
Observed Loss83
Observed Complex0
Frequencyn/a


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