A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610453



Internal ID6997370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:115382788..115397195hg38UCSC Ensembl
Innerchr6:115382789..115397194hg38UCSC Ensembl
Outerchr6:115382787..115397196hg38UCSC Ensembl
chr6:115703952..115718359hg19UCSC Ensembl
Innerchr6:115703953..115718358hg19UCSC Ensembl
Outerchr6:115703951..115718360hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg3814408
hg1914408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12509372, essv12509344, essv12509359, essv12509349, essv12509385, essv12509346, essv12509353, essv12509379, essv12509381, essv12509348, essv12509363, essv12509378, essv12509367, essv12509342, essv12509384, essv12509354, essv12509383, essv12509339, essv12509373, essv12509358, essv12509370, essv12509356, essv12509352, essv12509337, essv12509376, essv12509377, essv12509350, essv12509374, essv12509343, essv12509351, essv12509345, essv12509380, essv12509333, essv12509362, essv12509328, essv12509347, essv12509364, essv12509382, essv12509335, essv12509366, essv12509365, essv12509361, essv12509330, essv12509331, essv12509341, essv12509375, essv12509338, essv12509357, essv12509336, essv12509371, essv12509360, essv12509369, essv12509329, essv12509355, essv12509334, essv12509368, essv12509340, essv12509332
SamplesNA19703, NA19204, HG03175, HG02012, HG03130, HG03190, HG03100, NA20346, HG03139, NA18510, HG02952, NA19916, NA18916, NA19197, NA19138, HG02111, HG03520, NA19383, HG01495, NA19207, HG03352, NA19200, HG03343, HG03120, NA19175, HG02090, NA19152, HG02678, HG02511, NA19391, HG03397, NA20282, NA19257, HG02332, HG02675, HG02255, HG02282, NA19256, NA19147, HG03367, HG02314, NA19835, HG03304, NA19475, NA19818, NA19223, HG02646, HG02938, NA19713, NA19185, NA19102, NA19116, NA19900, NA18522, HG03129, NA19429, HG03166, HG03265
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610453
Frequency
Sample Size2504
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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