A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617392



Internal ID7004277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61600299..61602874hg38UCSC Ensembl
Innerchr8:61600300..61602874hg38UCSC Ensembl
Outerchr8:61600299..61602875hg38UCSC Ensembl
chr8:62512858..62515433hg19UCSC Ensembl
Innerchr8:62512859..62515433hg19UCSC Ensembl
Outerchr8:62512858..62515434hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg382576
hg192576
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13211368, essv13211302, essv13211332, essv13211300, essv13211348, essv13211373, essv13211336, essv13211335, essv13211331, essv13211289, essv13211341, essv13211376, essv13211354, essv13211285, essv13211386, essv13211323, essv13211295, essv13211291, essv13211298, essv13211372, essv13211293, essv13211352, essv13211342, essv13211308, essv13211343, essv13211315, essv13211375, essv13211347, essv13211311, essv13211353, essv13211346, essv13211321, essv13211366, essv13211340, essv13211367, essv13211364, essv13211361, essv13211359, essv13211303, essv13211292, essv13211305, essv13211355, essv13211384, essv13211334, essv13211339, essv13211317, essv13211344, essv13211379, essv13211312, essv13211290, essv13211309, essv13211356, essv13211304, essv13211325, essv13211320, essv13211369, essv13211287, essv13211363, essv13211318, essv13211349, essv13211296, essv13211388, essv13211324, essv13211316, essv13211358, essv13211330, essv13211378, essv13211351, essv13211371, essv13211314, essv13211360, essv13211385, essv13211382, essv13211294, essv13211310, essv13211374, essv13211387, essv13211365, essv13211383, essv13211337, essv13211288, essv13211329, essv13211327, essv13211345, essv13211380, essv13211326, essv13211357, essv13211350, essv13211306, essv13211381, essv13211301, essv13211313, essv13211299, essv13211307, essv13211377, essv13211370, essv13211328, essv13211333, essv13211338, essv13211286, essv13211319, essv13211322, essv13211284, essv13211362, essv13211297
SamplesHG03096, HG02890, HG02973, HG02702, HG03241, HG01389, HG02798, NA18917, HG02891, NA19092, NA18486, HG02323, NA19355, NA19377, HG03515, HG03193, HG03577, NA20356, HG02895, HG03133, HG03436, NA18519, HG03086, HG03385, HG03452, HG01488, HG03091, NA19198, NA19131, HG03246, NA19023, HG02054, HG02816, HG02111, NA19130, HG02281, NA18874, HG02573, HG02634, NA20340, NA19901, HG03380, HG01198, HG02545, HG02623, NA18908, HG02882, NA19210, NA19707, HG01247, HG02678, HG02554, NA18516, HG03159, HG02102, HG03027, HG02976, HG01049, NA18907, NA19118, NA18912, HG02979, NA19257, HG02585, NA19756, HG03354, HG02896, HG03109, HG02255, NA19401, HG02330, NA19206, HG02667, NA18909, NA19256, NA19434, HG03539, HG02501, HG02721, NA19037, HG03458, NA20351, NA19380, NA18865, HG03259, HG03419, HG02814, HG03565, HG02095, NA19438, NA19223, NA19351, HG03049, NA19713, HG03258, HG02462, HG03410, HG02679, HG02013, NA19213, NA19129, HG02805, HG03303, NA19431, HG03265
Known GenesASPH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617392
Frequency
Sample Size2504
Observed Gain0
Observed Loss105
Observed Complex0
Frequencyn/a


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