A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645974



Internal ID6686034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47710218..47710717hg38UCSC Ensembl
Innerchr20:47710219..47710716hg38UCSC Ensembl
Outerchr20:47710217..47710718hg38UCSC Ensembl
chr20:46338962..46339461hg19UCSC Ensembl
Innerchr20:46338963..46339460hg19UCSC Ensembl
Outerchr20:46338961..46339462hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16197434, essv16197433, essv16197426, essv16197435, essv16197448, essv16197440, essv16197461, essv16197471, essv16197481, essv16197428, essv16197488, essv16197484, essv16197465, essv16197487, essv16197467, essv16197462, essv16197423, essv16197438, essv16197430, essv16197425, essv16197456, essv16197463, essv16197473, essv16197446, essv16197469, essv16197437, essv16197492, essv16197482, essv16197452, essv16197439, essv16197451, essv16197470, essv16197449, essv16197489, essv16197493, essv16197479, essv16197424, essv16197474, essv16197455, essv16197421, essv16197459, essv16197441, essv16197445, essv16197466, essv16197431, essv16197447, essv16197480, essv16197443, essv16197458, essv16197486, essv16197442, essv16197476, essv16197464, essv16197436, essv16197454, essv16197490, essv16197483, essv16197450, essv16197478, essv16197420, essv16197485, essv16197457, essv16197422, essv16197444, essv16197472, essv16197491, essv16197432, essv16197427, essv16197468, essv16197429, essv16197477, essv16197475, essv16197453, essv16197460
SamplesNA19248, HG02427, HG03058, HG03120, HG03354, HG02108, HG02675, HG01896, HG02816, HG01064, HG03478, HG01444, HG02799, HG01105, HG03304, HG03086, HG03295, HG03189, HG01085, HG03133, HG01488, HG02887, HG03432, HG03538, NA19355, HG03268, HG03378, HG02583, NA19147, NA20320, NA18912, HG03451, HG02595, HG02888, HG02840, HG03085, HG02878, NA20291, HG02768, NA19024, NA19206, HG03455, HG02594, HG02573, HG02623, HG02807, HG03168, HG03514, HG02111, HG03096, NA18878, HG03428, HG02852, HG02307, HG02582, HG02309, HG02947, HG03363, HG03446, NA20332, NA19403, HG02481, NA20509, HG01485, HG02891, NA19160, HG02642, HG01985, HG03372, NA20806, HG02505, NA19448, NA19454, HG02860
Known GenesSULF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645974
Frequency
Sample Size2504
Observed Gain0
Observed Loss74
Observed Complex0
Frequencyn/a


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