A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv80e55



Internal ID22761030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:19734966..20015501hg38UCSC Ensembl
chr14:20203125..20483660hg19UCSC Ensembl
chr14:19272965..19553500hg18UCSC Ensembl
chr14:19272965..19553500hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38280536
hg19280536
hg18280536
hg17280536
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751227, esv34430, esv2751176, esv34976, esv2751197, esv2751251, esv2751180, esv2751196, esv2751212, esv2751217, esv2751214, esv2751218, esv2751244, esv34204, esv34454, esv34259, esv2751213, esv2751211, esv2751195, esv2751198, esv34555, esv34505, esv35132, esv2751209, esv2751203, esv34295, esv34802, esv2751163, esv35135, esv2751181, esv34655, esv2751185, esv34416, esv2751193, esv2751230, esv2751261, esv2751202, esv34524, esv34593, esv34394, esv2751243, esv2751226, esv2751247, esv34456, esv34244, esv2751246, esv35085, esv34481, esv2751206, esv35039, esv2751232, esv2751234, esv34836, esv2751233, esv2751164, esv2751183, esv2751245, esv2751189, esv2751215, esv34792, esv34553, esv34844, esv2751165, esv2751257, esv2751262, esv2751259, esv2751167, esv34535, esv2751216, esv2751191, esv2751248, esv2751200, esv2751177, esv2751210, esv2751249, esv2751240, esv2751250, esv34311, esv2751221, esv2751204, esv2751229, esv2751184, esv2751220, esv34678, esv2751199, esv34596, esv2751208, esv34766, esv34286, esv35151, esv2751228, esv34371, esv2751178, esv2751231, esv2751166, esv2751205, esv34633, esv2751192, esv2751260, esv2751252, esv2751182, esv2751223, esv2751188, esv2751225, esv34770, esv2751186, esv2751263, esv34927, esv2751162, esv35129, esv2751168, esv2751169, esv34399, esv34246, esv2751187, esv2751179, esv35131, esv2751256, esv2751222, esv2751224, esv35105, esv35000, esv34549, esv2751258, esv34363, esv2751207, esv2751201, esv2751255, esv35113
SamplesBEC_785, NA12717, BEC_675, BEC_299, SPC_10, NA18592, BEC_431, BEC_41, SPC_140, BEC_775, BEC_337, SPC_2, BEC_592, NA12004, SPC_102, BEC_57, BEC_342, BEC_382, BEC_8, NA18526, BEC_668, BEC_698, SPC_93, BEC_689, BEC_637, NA19171, SPC_85, NA18550, BEC_706, BEC_570, NA18995, BEC_351, BEC_680, NA12802, BEC_501, BEC_301, BEC_177, SPC_3, NA18582, BEC_91, NA19130, BEC_699, BEC_287, BEC_661, BEC_601, BEC_596, BEC_294, NA11994, BEC_433, NA12815, BEC_547, NA18990, NA19239, NA10839, BEC_742, SPC_163, NA19200, NA19007, BEC_604, BEC_503, NA18605, BEC_673, NA12752, BEC_307, BEC_309, NA18516, BEC_561, BEC_386, BEC_765, NA18871, BEC_424, BEC_768, NA10830, BEC_665, NA18857, BEC_652, BEC_629, NA06985, BEC_74, NA19012, BEC_427, BEC_693, BEC_425, NA18632, BEC_515, BEC_707, NA12864, NA18564, BEC_569, BEC_114, SPC_4, SPC_133, NA19240, SPC_174, BEC_711, BEC_605, BEC_628, BEC_175, BEC_683, BEC_556, SPC_34, NA18943, NA18594, BEC_532, SPC_193, BEC_541, BEC_470, BEC_395, BEC_460, BEC_371, BEC_389, BEC_734, BEC_132, BEC_741, BEC_736, BEC_608, BEC_397, BEC_533, BEC_551, BEC_540, SPC_23, SPC_165, NA18968, NA12006, BEC_353, BEC_348, NA18965, NA18997, BEC_724
Known GenesOR4K1, OR4K14, OR4K15, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv80e55
Frequency
Sample Size771
Observed Gain439
Observed Loss0
Observed Complex0
Frequencyn/a


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