A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588064



Internal ID6628364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180259266..180261273hg38UCSC Ensembl
Innerchr1:180259289..180261250hg38UCSC Ensembl
Outerchr1:180259243..180261296hg38UCSC Ensembl
chr1:180228401..180230408hg19UCSC Ensembl
Innerchr1:180228424..180230385hg19UCSC Ensembl
Outerchr1:180228378..180230431hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382008
hg192008
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10200157, essv10200211, essv10200212, essv10200177, essv10200193, essv10200190, essv10200153, essv10200204, essv10200196, essv10200147, essv10200156, essv10200167, essv10200181, essv10200164, essv10200210, essv10200194, essv10200173, essv10200191, essv10200151, essv10200160, essv10200206, essv10200207, essv10200183, essv10200188, essv10200171, essv10200161, essv10200155, essv10200200, essv10200169, essv10200165, essv10200159, essv10200168, essv10200172, essv10200154, essv10200149, essv10200175, essv10200178, essv10200208, essv10200192, essv10200148, essv10200150, essv10200197, essv10200174, essv10200185, essv10200198, essv10200179, essv10200184, essv10200195, essv10200187, essv10200205, essv10200209, essv10200203, essv10200158, essv10200201, essv10200163, essv10200176, essv10200162, essv10200189, essv10200199, essv10200186, essv10200182, essv10200152, essv10200170, essv10200202, essv10200166, essv10200180
SamplesHG02715, HG02808, HG02477, NA19214, HG03382, HG03479, NA18871, HG01882, HG02549, HG03055, NA19149, NA18511, HG03057, HG01325, HG03133, NA19449, HG03111, HG02977, HG03458, HG02471, NA19017, HG03485, NA19236, NA19467, NA19117, NA19383, NA18508, HG02462, NA19900, HG02968, NA19096, NA18876, NA19440, HG03100, NA19036, HG03114, NA19042, HG02757, NA19372, HG02594, HG03472, HG01069, HG01889, HG03096, HG03291, HG02479, HG03028, NA18907, NA18867, HG03061, HG02628, HG03198, NA18864, HG02679, HG03557, HG03271, HG03372, HG02798, HG03117, NA19350, HG03517, NA19185, HG02505, HG02332, NA20339, NA19439
Known GenesLHX4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588064
Frequency
Sample Size2504
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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