A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597866



Internal ID6638133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:135123690..135125464hg38UCSC Ensembl
Innerchr3:135123691..135125464hg38UCSC Ensembl
Outerchr3:135123690..135125465hg38UCSC Ensembl
chr3:134842532..134844306hg19UCSC Ensembl
Innerchr3:134842533..134844306hg19UCSC Ensembl
Outerchr3:134842532..134844307hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg381775
hg191775
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11156474, essv11156508, essv11156457, essv11156481, essv11156504, essv11156465, essv11156487, essv11156513, essv11156479, essv11156489, essv11156448, essv11156515, essv11156469, essv11156482, essv11156523, essv11156521, essv11156488, essv11156494, essv11156462, essv11156497, essv11156507, essv11156475, essv11156470, essv11156524, essv11156490, essv11156480, essv11156445, essv11156495, essv11156460, essv11156483, essv11156485, essv11156486, essv11156499, essv11156520, essv11156456, essv11156466, essv11156525, essv11156510, essv11156449, essv11156477, essv11156447, essv11156458, essv11156453, essv11156443, essv11156452, essv11156501, essv11156519, essv11156522, essv11156492, essv11156463, essv11156455, essv11156514, essv11156451, essv11156476, essv11156446, essv11156461, essv11156511, essv11156493, essv11156509, essv11156472, essv11156502, essv11156467, essv11156517, essv11156496, essv11156473, essv11156516, essv11156484, essv11156512, essv11156444, essv11156450, essv11156478, essv11156526, essv11156506, essv11156505, essv11156503, essv11156500, essv11156459, essv11156491, essv11156498, essv11156518, essv11156468, essv11156464, essv11156471, essv11156454
SamplesHG02666, HG03370, NA19146, NA19445, NA18861, HG02810, NA19904, HG03280, HG00743, HG01072, NA19222, NA18874, HG02284, HG02983, HG02549, NA19401, HG00736, HG02318, HG03247, HG03295, HG01079, HG03313, NA19319, NA18516, HG01051, HG03133, HG03265, HG02885, HG02946, NA19338, HG02944, HG03111, HG03432, NA19210, HG03380, HG02805, NA19037, HG03159, NA19428, NA18934, NA19314, HG03193, HG02462, NA19197, HG02554, HG02012, HG02667, NA19256, HG03079, NA19457, NA19324, HG03225, HG02840, HG03169, NA19377, HG03190, HG02054, NA19024, HG02922, HG02807, HG02611, HG03514, HG03073, HG02947, NA19394, NA19403, HG03556, NA19431, HG03198, NA18879, HG03240, HG02679, HG03077, NA19916, NA19118, NA19095, NA19171, HG01985, HG02798, HG03515, HG03517, HG02013, HG02820, NA19439
Known GenesEPHB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597866
Frequency
Sample Size2504
Observed Gain0
Observed Loss84
Observed Complex0
Frequencyn/a


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