A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602765



Internal ID6643021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:155673010..155677231hg38UCSC Ensembl
Innerchr4:155673024..155677218hg38UCSC Ensembl
Outerchr4:155672997..155677245hg38UCSC Ensembl
chr4:156594162..156598383hg19UCSC Ensembl
Innerchr4:156594176..156598370hg19UCSC Ensembl
Outerchr4:156594149..156598397hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg384222
hg194222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11659341, essv11659319, essv11659345, essv11659321, essv11659336, essv11659257, essv11659335, essv11659323, essv11659255, essv11659311, essv11659262, essv11659308, essv11659267, essv11659281, essv11659263, essv11659293, essv11659344, essv11659259, essv11659298, essv11659264, essv11659258, essv11659320, essv11659330, essv11659290, essv11659333, essv11659287, essv11659277, essv11659327, essv11659261, essv11659285, essv11659332, essv11659312, essv11659342, essv11659304, essv11659338, essv11659305, essv11659317, essv11659294, essv11659268, essv11659313, essv11659316, essv11659343, essv11659280, essv11659315, essv11659289, essv11659297, essv11659340, essv11659279, essv11659266, essv11659286, essv11659346, essv11659291, essv11659331, essv11659273, essv11659276, essv11659322, essv11659253, essv11659256, essv11659303, essv11659272, essv11659318, essv11659284, essv11659271, essv11659270, essv11659307, essv11659283, essv11659260, essv11659299, essv11659329, essv11659254, essv11659275, essv11659278, essv11659339, essv11659300, essv11659292, essv11659309, essv11659306, essv11659324, essv11659328, essv11659265, essv11659288, essv11659310, essv11659269, essv11659326, essv11659296, essv11659325, essv11659314, essv11659295, essv11659274, essv11659302, essv11659301, essv11659334, essv11659282, essv11659337
SamplesNA19248, HG02427, NA19436, HG02675, HG03521, HG03280, NA19404, NA18966, HG02799, HG03410, NA19310, HG03129, NA19023, NA18511, NA19455, NA19319, HG02979, HG02014, HG03419, HG01956, HG03571, HG03311, HG02944, HG02817, NA19236, NA18505, NA19147, NA19043, HG03376, HG02982, HG02455, NA19428, HG03127, NA19239, HG03193, NA19309, HG02554, HG02568, HG01398, HG03442, HG03436, NA19397, NA19351, HG03445, HG02851, HG03024, NA19700, HG03169, HG02442, HG03190, HG03195, NA19372, HG03391, HG02562, HG03455, NA19027, HG02922, NA18522, HG02611, HG02571, HG03291, NA18910, HG02052, HG03118, HG02339, HG02624, HG01933, HG03132, NA19235, HG02484, HG03363, NA19138, HG03267, HG02481, NA19452, NA18864, NA19041, HG02702, HG01886, NA19160, NA18499, NA18924, HG02476, HG03077, HG03271, NA19350, HG02315, HG02620, NA19468, HG01890, NA18881, HG02855, HG02820, HG03460
Known GenesGUCY1A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602765
Frequency
Sample Size2504
Observed Gain0
Observed Loss94
Observed Complex0
Frequencyn/a


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