A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599858



Internal ID6986903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:21103635..21109140hg38UCSC Ensembl
Innerchr4:21104135..21108640hg38UCSC Ensembl
Outerchr4:21102635..21110140hg38UCSC Ensembl
chr4:21105258..21110763hg19UCSC Ensembl
Innerchr4:21105758..21110263hg19UCSC Ensembl
Outerchr4:21104258..21111763hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg385506
hg195506
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11367363, essv11367345, essv11367346, essv11367333, essv11367353, essv11367372, essv11367318, essv11367369, essv11367352, essv11367350, essv11367364, essv11367365, essv11367354, essv11367328, essv11367377, essv11367314, essv11367326, essv11367358, essv11367323, essv11367342, essv11367344, essv11367370, essv11367367, essv11367366, essv11367309, essv11367359, essv11367332, essv11367312, essv11367339, essv11367324, essv11367331, essv11367334, essv11367317, essv11367315, essv11367337, essv11367316, essv11367338, essv11367325, essv11367321, essv11367356, essv11367335, essv11367329, essv11367340, essv11367374, essv11367347, essv11367336, essv11367355, essv11367373, essv11367348, essv11367361, essv11367330, essv11367371, essv11367313, essv11367320, essv11367311, essv11367319, essv11367376, essv11367349, essv11367375, essv11367322, essv11367351, essv11367327, essv11367341, essv11367362, essv11367310, essv11367360, essv11367343, essv11367368, essv11367357
SamplesHG03514, NA19701, HG02890, HG02628, NA19703, NA19466, NA19399, HG02318, HG03115, HG03295, NA19377, HG03297, HG02769, HG03135, HG03499, HG02952, NA19307, HG03370, HG02549, NA18916, NA19038, HG02505, HG03520, NA18874, NA18868, HG02571, NA19189, HG02946, NA19239, HG02882, HG03120, HG03054, HG03160, HG02582, NA19984, NA19327, HG02450, HG02953, NA20126, HG03123, HG03388, HG02979, NA19160, HG02813, NA19017, HG02330, HG02282, HG02807, HG02304, HG02923, NA19380, HG02611, NA18865, NA20281, HG03103, NA19117, HG02974, HG03157, HG02970, HG02938, HG02053, NA19185, NA19096, HG02052, NA18488, NA19312, HG02851, HG03198, HG03196
Known GenesKCNIP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599858
Frequency
Sample Size2504
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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