A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586084



Internal ID6973604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54146201..54149534hg38UCSC Ensembl
Innerchr1:54146211..54149525hg38UCSC Ensembl
Outerchr1:54146192..54149544hg38UCSC Ensembl
chr1:54611874..54615207hg19UCSC Ensembl
Innerchr1:54611884..54615198hg19UCSC Ensembl
Outerchr1:54611865..54615217hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383334
hg193334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9932383, essv9932388, essv9932355, essv9932381, essv9932365, essv9932395, essv9932362, essv9932370, essv9932351, essv9932396, essv9932382, essv9932359, essv9932386, essv9932367, essv9932371, essv9932394, essv9932375, essv9932391, essv9932389, essv9932397, essv9932393, essv9932390, essv9932372, essv9932376, essv9932374, essv9932387, essv9932385, essv9932358, essv9932356, essv9932380, essv9932361, essv9932354, essv9932364, essv9932377, essv9932379, essv9932366, essv9932353, essv9932378, essv9932368, essv9932392, essv9932352, essv9932363, essv9932360, essv9932357, essv9932369, essv9932373, essv9932384
SamplesHG03366, HG02628, HG02702, HG03247, HG02836, NA19020, HG03190, HG02589, HG02810, HG03091, NA19916, HG03370, HG02860, NA19904, HG02111, HG02281, HG03189, HG02573, NA19172, HG02471, NA18864, HG03267, HG03270, HG02439, NA19210, HG03547, HG03291, HG02511, NA19913, HG02322, NA18915, NA19452, NA19160, HG02586, NA19206, HG02667, HG01915, HG02611, HG01108, NA20281, HG03557, HG03103, NA19096, NA19116, NA19430, NA18511, HG03196
Known GenesCDCP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586084
Frequency
Sample Size2504
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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