A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586831



Internal ID6627140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93747265..93748030hg38UCSC Ensembl
Innerchr1:93747265..93748030hg38UCSC Ensembl
Outerchr1:93747017..93748345hg38UCSC Ensembl
chr1:94212821..94213586hg19UCSC Ensembl
Innerchr1:94212821..94213586hg19UCSC Ensembl
Outerchr1:94212573..94213901hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38766
hg19766
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10022356, essv10022316, essv10022344, essv10022376, essv10022352, essv10022321, essv10022369, essv10022365, essv10022349, essv10022330, essv10022358, essv10022386, essv10022346, essv10022342, essv10022375, essv10022374, essv10022353, essv10022384, essv10022322, essv10022368, essv10022370, essv10022383, essv10022371, essv10022379, essv10022333, essv10022378, essv10022362, essv10022332, essv10022340, essv10022357, essv10022359, essv10022347, essv10022339, essv10022361, essv10022350, essv10022328, essv10022319, essv10022318, essv10022327, essv10022363, essv10022366, essv10022331, essv10022329, essv10022317, essv10022377, essv10022372, essv10022382, essv10022345, essv10022367, essv10022380, essv10022324, essv10022343, essv10022338, essv10022334, essv10022351, essv10022348, essv10022385, essv10022387, essv10022364, essv10022336, essv10022337, essv10022354, essv10022325, essv10022326, essv10022341, essv10022381, essv10022373, essv10022360, essv10022320, essv10022323, essv10022335, essv10022355
SamplesNA19146, HG02808, NA19913, HG03121, NA19030, NA19445, NA18933, HG02546, NA20516, HG03478, HG02284, HG03055, HG03304, HG03313, HG03189, HG03452, HG01956, HG03212, HG01883, HG02944, HG03111, HG03458, HG03099, HG01958, HG03548, NA19438, NA19143, HG03376, NA20412, NA19428, HG02981, HG02716, NA19443, HG02012, HG02143, NA19658, NA19324, NA19213, NA19172, NA19372, HG02768, HG03511, NA19119, HG03514, NA18858, HG02111, HG02511, HG03073, HG02536, HG03297, NA19318, HG03118, NA19462, HG03352, NA19235, HG02484, HG03303, NA20276, NA19116, HG03267, NA20298, HG03123, NA19452, HG01108, NA19346, HG01462, HG02555, HG02620, HG02505, NA19454, NA19468, NA19439
Known GenesBCAR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586831
Frequency
Sample Size2504
Observed Gain0
Observed Loss72
Observed Complex0
Frequencyn/a


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