A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3338758



Internal ID15185745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:42086021..42086037hg38UCSC Ensembl
Innerchr4:42086012..42086046hg38UCSC Ensembl
Outerchr4:42085993..42086062hg38UCSC Ensembl
chr4:42088038..42088054hg19UCSC Ensembl
Innerchr4:42088029..42088063hg19UCSC Ensembl
Outerchr4:42088010..42088079hg19UCSC Ensembl
chr4:41782795..41782811hg18UCSC Ensembl
Innerchr4:41782820..41782786hg18UCSC Ensembl
Outerchr4:41782767..41782836hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8918301, essv8918292, essv8918297, essv8918240, essv8918304, essv8918310, essv8918330, essv8918250, essv8918285, essv8918253, essv8918306, essv8918261, essv8918277, essv8918325, essv8918263, essv8918268, essv8918255, essv8918242, essv8918283, essv8918287, essv8918254, essv8918288, essv8918286, essv8918276, essv8918312, essv8918271, essv8918256, essv8918248, essv8918314, essv8918321, essv8918266, essv8918243, essv8918315, essv8918320, essv8918294, essv8918245, essv8918318, essv8918295, essv8918298, essv8918281, essv8918278, essv8918329, essv8918328, essv8918275, essv8918332, essv8918331, essv8918284, essv8918264, essv8918309, essv8918282, essv8918319, essv8918334, essv8918279, essv8918296, essv8918300, essv8918327, essv8918299, essv8918241, essv8918262, essv8918259, essv8918323, essv8918260, essv8918246, essv8918270, essv8918317, essv8918308, essv8918239, essv8918257, essv8918316, essv8918307, essv8918274, essv8918326, essv8918252, essv8918290, essv8918272, essv8918265, essv8918311, essv8918293, essv8918305, essv8918251, essv8918322, essv8918244, essv8918303, essv8918267, essv8918333, essv8918249, essv8918273, essv8918289
SamplesNA12717, NA18947, NA11829, NA18861, NA18592, NA10851, NA18980, NA18561, NA11920, NA11931, NA18603, NA12045, NA12751, NA18545, NA12004, NA18959, NA18870, NA18526, NA12750, NA12155, NA07357, NA07346, NA18563, NA19005, NA18944, NA18940, NA18550, NA18558, NA18547, NA18960, NA18942, NA11992, NA07347, NA18582, NA18571, NA18964, NA18949, NA12761, NA12156, NA12044, NA11994, NA12828, NA18973, NA18638, NA11831, NA10847, NA18951, NA18605, NA12489, NA12003, NA18579, NA18572, NA18948, NA18537, NA18566, NA18573, NA11919, NA12249, NA18532, NA18555, NA12144, NA18570, NA18858, NA18593, NA18945, NA18576, NA12043, NA18608, NA18953, NA18542, NA12716, NA11881, NA18961, NA18952, NA18564, NA07051, NA18943, NA07037, NA06986, NA12749, NA18609, NA18552, NA07000, NA12154, NA18562, NA12776, NA18965, NA18577
Known GenesSLC30A9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3338758
Frequency
Sample Size185
Observed Gain88
Observed Loss0
Observed Complex0
Frequencyn/a


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