A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589092



Internal ID6976509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230444283..230453673hg38UCSC Ensembl
Innerchr1:230444297..230453659hg38UCSC Ensembl
Outerchr1:230444269..230453687hg38UCSC Ensembl
chr1:230580029..230589419hg19UCSC Ensembl
Innerchr1:230580043..230589405hg19UCSC Ensembl
Outerchr1:230580015..230589433hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg389391
hg199391
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10317466, essv10317489, essv10317497, essv10317485, essv10317464, essv10317470, essv10317498, essv10317478, essv10317456, essv10317486, essv10317467, essv10317487, essv10317463, essv10317459, essv10317472, essv10317473, essv10317480, essv10317453, essv10317477, essv10317499, essv10317461, essv10317492, essv10317448, essv10317501, essv10317500, essv10317447, essv10317491, essv10317460, essv10317450, essv10317474, essv10317503, essv10317449, essv10317445, essv10317481, essv10317465, essv10317495, essv10317452, essv10317483, essv10317454, essv10317476, essv10317457, essv10317462, essv10317479, essv10317446, essv10317451, essv10317488, essv10317502, essv10317471, essv10317469, essv10317458, essv10317468, essv10317455, essv10317490, essv10317475, essv10317496, essv10317484, essv10317482, essv10317494, essv10317493
SamplesNA19394, HG01986, HG02574, NA20339, HG03559, HG02628, NA19466, HG03517, HG02895, NA20359, HG03086, HG03499, HG02840, NA20317, HG03370, HG03040, NA19384, HG02281, NA19159, NA19036, NA20412, HG03073, NA19025, HG02882, NA19451, HG02479, NA19247, HG01187, NA19707, NA19347, HG02322, HG02953, HG03159, HG02014, HG03027, HG02757, HG02817, NA19042, NA18856, NA19320, HG02256, HG02635, NA19436, HG02613, HG03240, HG00265, HG02308, HG01272, HG03127, NA19439, HG02580, NA19376, NA19223, HG03097, HG03063, HG02861, NA19312, HG02465, HG02643
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589092
Frequency
Sample Size2504
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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