A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638341



Internal ID7025127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28603186..28615595hg38UCSC Ensembl
chr16:28614507..28626916hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3812410
hg1912410
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv501e214
Supporting Variantsessv15441201, essv15441165, essv15441207, essv15441209, essv15441214, essv15441189, essv15441160, essv15441159, essv15441216, essv15441195, essv15441218, essv15441174, essv15441168, essv15441202, essv15441212, essv15441193, essv15441187, essv15441177, essv15441186, essv15441175, essv15441217, essv15441179, essv15441166, essv15441208, essv15441206, essv15441173, essv15441196, essv15441190, essv15441211, essv15441178, essv15441176, essv15441204, essv15441221, essv15441220, essv15441205, essv15441182, essv15441170, essv15441213, essv15441163, essv15441200, essv15441198, essv15441184, essv15441183, essv15441181, essv15441164, essv15441197, essv15441167, essv15441180, essv15441172, essv15441203, essv15441191, essv15441194, essv15441171, essv15441215, essv15441169, essv15441185, essv15441210, essv15441199, essv15441192, essv15441219, essv15441188, essv15441161, essv15441162
SamplesHG00650, HG03821, HG02122, NA18641, HG04002, HG03926, HG00452, NA20507, HG02384, HG03172, HG02154, HG02536, NA19190, HG00663, HG01873, NA19379, NA19005, HG02621, HG02016, HG03754, HG00448, HG00129, NA19404, HG01628, NA19235, HG02642, NA18520, HG01844, HG01312, HG01871, HG01595, NA19175, NA19077, NA19984, NA18579, HG01796, HG00956, HG00404, NA19059, HG01705, HG02408, HG02813, HG03240, HG03367, HG02088, HG01878, HG02611, HG03259, HG01598, HG00607, NA19376, NA19143, HG01785, NA18987, HG02679, NA19080, NA18552, NA18983, NA19121, HG02028, NA19316, HG00978, HG00581
Known GenesSULT1A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638341
Frequency
Sample Size2504
Observed Gain63
Observed Loss0
Observed Complex0
Frequencyn/a


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