A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv35e214



Internal ID20121458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103560121..103594054hg38UCSC Ensembl
chr1:104102743..104136676hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3833934
hg1933934
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3587013, esv3587012
SamplesNA20511, NA19394, HG01986, HG02574, NA20761, HG01402, HG00304, NA20529, NA19703, HG00102, NA19664, HG00358, NA20514, HG03241, HG02231, NA20512, HG00244, NA19350, NA19377, HG00737, HG03193, NA20517, HG02589, NA21128, NA20356, NA20359, HG00271, NA19446, NA19171, HG03770, NA19319, HG02690, HG02952, NA20774, HG01168, HG04042, HG02860, NA11918, NA07347, NA20768, HG02054, HG02562, HG02143, HG04183, HG01080, NA20518, NA20775, NA20812, HG00325, HG00113, HG02642, HG03947, HG02588, HG04020, NA20889, HG01048, HG01771, HG01058, NA20342, NA20127, HG03585, HG03394, NA18867, NA19789, HG02479, HG01124, HG00137, HG03697, NA19908, NA12489, HG03861, HG03714, HG01670, HG00245, HG03088, HG00360, HG02678, NA20521, NA20810, HG00132, HG01345, NA20519, NA18871, HG01323, HG00551, HG00239, HG03823, HG00740, NA18907, HG01102, HG02429, HG00250, HG03951, NA19042, HG03713, HG01593, HG03953, NA19099, HG02666, HG01474, HG01680, HG02635, HG02594, NA12546, HG02568, HG01956, HG01107, HG02722, NA19375, NA20872, NA19652, HG02667, HG04006, NA19256, NA18517, HG02010, NA19019, NA19454, HG03692, NA12873, HG01396, NA20530, NA12763, HG01342, HG03729, NA21090, HG03733, NA19468, HG00310, HG00112, NA19116, NA19030, NA11892, HG01125, NA19676, HG03271, HG03096, HG01746, HG01441, NA19222, HG03857, HG02610, HG02652, NA20853, NA20543, HG03652, NA19332, HG04229, HG02702, NA20899, HG01537, HG02648, NA11933, HG04094, HG01686, NA20808, NA20346, NA20507, HG02895, NA12155, HG01694, NA12341, HG03074, HG00251, HG01682, NA18489, HG04022, NA20850, NA19448, HG03490, NA20586, HG03765, HG03885, HG02655, NA19023, NA12283, HG03911, NA18498, HG03897, HG01398, NA18874, HG03968, HG03268, HG02573, HG03595, NA19917, NA19137, HG02461, NA20340, HG01308, NA20869, NA19159, HG02571, NA20764, NA20587, NA19451, NA19200, HG00739, HG01942, HG00188, NA18544, NA19247, NA20858, HG03787, NA19152, NA20536, HG03636, HG02307, HG01094, HG02494, NA11894, NA20881, HG03740, NA19338, HG00276, HG02585, NA21142, HG01589, HG00128, NA20765, NA20821, NA20773, NA11881, HG01190, HG00285, HG00742, HG02682, HG03899, HG03850, HG03488, HG03127, NA19310, NA20803, HG00256, HG03025, HG02646, HG03863, HG01783, NA20807, HG03410, HG02052, HG01883, HG00372, HG01377, HG03922, NA19146, NA20763, HG02808, HG03931
Known GenesACTG1P4, AMY2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv35e214
Frequency
Sample Size2504
Observed Gain249
Observed Loss0
Observed Complex0
Frequencyn/a


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