A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587731



Internal ID6975154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161549822..161623692hg38UCSC Ensembl
Innerchr1:161550322..161623192hg38UCSC Ensembl
Outerchr1:161548822..161624692hg38UCSC Ensembl
chr1:161519612..161593482hg19UCSC Ensembl
Innerchr1:161520112..161592982hg19UCSC Ensembl
Outerchr1:161518612..161594482hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3873871
hg1973871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10168457, essv10168455, essv10168491, essv10168478, essv10168494, essv10168454, essv10168483, essv10168450, essv10168453, essv10168466, essv10168452, essv10168470, essv10168460, essv10168503, essv10168492, essv10168490, essv10168504, essv10168481, essv10168471, essv10168488, essv10168462, essv10168465, essv10168473, essv10168484, essv10168496, essv10168461, essv10168505, essv10168485, essv10168464, essv10168499, essv10168506, essv10168459, essv10168486, essv10168495, essv10168467, essv10168501, essv10168445, essv10168502, essv10168493, essv10168472, essv10168447, essv10168480, essv10168507, essv10168479, essv10168446, essv10168463, essv10168475, essv10168482, essv10168451, essv10168498, essv10168476, essv10168497, essv10168487, essv10168474, essv10168456, essv10168489, essv10168500, essv10168469, essv10168448, essv10168477, essv10168468, essv10168458, essv10168449
SamplesNA19332, NA19704, HG02337, HG03558, NA18504, HG02589, HG03133, HG03082, HG03385, HG03499, NA19198, HG04144, HG02620, HG03246, HG02922, HG02505, HG02281, NA19922, HG03212, HG02461, NA19372, HG02885, HG03225, HG02946, NA18908, HG02570, HG03061, NA19462, HG02307, HG03159, HG02537, HG02555, HG02429, HG03476, HG03446, NA18853, NA19257, HG02666, HG02332, NA19095, NA18858, HG02568, HG02484, HG02722, NA19035, HG02557, NA19147, HG02546, HG02308, HG03127, NA19117, HG02971, HG03112, HG01912, HG03049, NA19102, HG03162, NA19146, NA19316, NA19312, HG02465, HG01125, HG03265
Known GenesFCGR2C, FCGR3A, FCGR3B, HSPA7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587731
Frequency
Sample Size2504
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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