A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594536



Internal ID6981856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227375885..227393521hg38UCSC Ensembl
chr2:228240601..228258237hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3817637
hg1917637
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10870353, essv10870312, essv10870273, essv10870347, essv10870278, essv10870267, essv10870305, essv10870297, essv10870286, essv10870302, essv10870340, essv10870287, essv10870308, essv10870359, essv10870328, essv10870348, essv10870281, essv10870345, essv10870306, essv10870295, essv10870342, essv10870360, essv10870293, essv10870317, essv10870327, essv10870276, essv10870349, essv10870321, essv10870351, essv10870294, essv10870322, essv10870275, essv10870300, essv10870334, essv10870320, essv10870325, essv10870341, essv10870304, essv10870288, essv10870270, essv10870298, essv10870354, essv10870332, essv10870311, essv10870283, essv10870280, essv10870296, essv10870330, essv10870299, essv10870356, essv10870268, essv10870357, essv10870324, essv10870310, essv10870335, essv10870323, essv10870290, essv10870329, essv10870309, essv10870326, essv10870352, essv10870289, essv10870315, essv10870355, essv10870358, essv10870274, essv10870343, essv10870319, essv10870333, essv10870350, essv10870307, essv10870301, essv10870303, essv10870282, essv10870339, essv10870285, essv10870338, essv10870272, essv10870291, essv10870277, essv10870346, essv10870336, essv10870314, essv10870344, essv10870269, essv10870271, essv10870292, essv10870337, essv10870318, essv10870284, essv10870316, essv10870331, essv10870313, essv10870279
SamplesNA12383, NA19648, NA11830, HG01521, HG01303, NA20766, NA11995, NA11829, HG00384, HG00351, HG02433, NA19704, NA19734, NA20813, NA20752, NA20802, HG01465, HG01686, HG01531, HG03018, HG02215, NA20808, HG01518, HG00341, HG00150, NA12750, HG00109, HG01779, NA20850, NA20890, NA20774, NA20795, HG01492, HG03604, NA07048, HG02655, HG00355, HG01372, HG00158, NA12275, NA20775, NA19917, NA12815, HG01259, HG04047, HG01771, NA20342, HG00178, HG01605, HG01967, HG00264, HG01603, HG02009, NA19657, NA20505, HG01790, NA20536, HG00320, HG01345, NA19658, NA20832, HG01092, HG01102, HG01762, HG00250, NA11893, NA11894, HG03802, NA20538, NA12249, NA19761, HG01679, NA20534, HG00383, HG00366, NA20815, HG01396, NA20520, NA12874, NA07037, HG01342, HG00381, NA12749, HG00342, HG00288, HG03716, NA20786, NA20807, NA20826, HG01672, NA12154, HG01578, HG01747, NA20511
Known GenesTM4SF20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594536
Frequency
Sample Size2504
Observed Gain94
Observed Loss0
Observed Complex0
Frequencyn/a


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