A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612402



Internal ID6999303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16643502..16643963hg38UCSC Ensembl
Innerchr7:16643503..16643963hg38UCSC Ensembl
Outerchr7:16643502..16643964hg38UCSC Ensembl
chr7:16683127..16683588hg19UCSC Ensembl
Innerchr7:16683128..16683588hg19UCSC Ensembl
Outerchr7:16683127..16683589hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12688261, essv12688260, essv12688255, essv12688284, essv12688256, essv12688233, essv12688262, essv12688269, essv12688236, essv12688280, essv12688264, essv12688265, essv12688238, essv12688242, essv12688239, essv12688283, essv12688281, essv12688266, essv12688241, essv12688274, essv12688250, essv12688271, essv12688268, essv12688235, essv12688251, essv12688277, essv12688282, essv12688246, essv12688285, essv12688276, essv12688232, essv12688270, essv12688237, essv12688248, essv12688273, essv12688240, essv12688231, essv12688234, essv12688286, essv12688243, essv12688267, essv12688258, essv12688245, essv12688254, essv12688257, essv12688253, essv12688263, essv12688279, essv12688278, essv12688272, essv12688259, essv12688275, essv12688244, essv12688252, essv12688247, essv12688249
SamplesHG01441, HG03121, HG03378, NA18508, HG03175, NA19704, HG03518, HG03086, NA19319, HG02810, HG02485, HG02325, NA19457, NA20287, NA19384, HG01242, NA19372, NA19024, NA19385, HG02471, NA18908, HG03048, HG02570, HG03132, NA19175, HG02108, NA19236, HG02976, HG03136, NA19113, HG02309, HG02979, NA19452, NA19318, NA19395, HG02675, NA19017, NA19440, NA19309, NA19037, HG03117, NA19380, NA19428, NA19324, HG02580, HG03557, NA18501, HG03565, HG03112, NA19468, HG03279, HG02053, NA19093, HG02855, NA19429, NA19431
Known GenesANKMY2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612402
Frequency
Sample Size2504
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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