A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588914



Internal ID6976330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221151729..221153015hg38UCSC Ensembl
Innerchr1:221151729..221153015hg38UCSC Ensembl
Outerchr1:221151502..221153335hg38UCSC Ensembl
chr1:221325071..221326357hg19UCSC Ensembl
Innerchr1:221325071..221326357hg19UCSC Ensembl
Outerchr1:221324844..221326677hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381287
hg191287
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10299487, essv10299542, essv10299525, essv10299515, essv10299492, essv10299489, essv10299513, essv10299496, essv10299502, essv10299533, essv10299535, essv10299501, essv10299532, essv10299526, essv10299512, essv10299538, essv10299541, essv10299495, essv10299508, essv10299494, essv10299498, essv10299491, essv10299523, essv10299529, essv10299527, essv10299518, essv10299520, essv10299522, essv10299516, essv10299530, essv10299539, essv10299504, essv10299531, essv10299509, essv10299521, essv10299500, essv10299524, essv10299540, essv10299514, essv10299499, essv10299488, essv10299507, essv10299506, essv10299505, essv10299537, essv10299528, essv10299517, essv10299534, essv10299490, essv10299503, essv10299519, essv10299486, essv10299536, essv10299510, essv10299543, essv10299511, essv10299493, essv10299497
SamplesHG02890, NA19914, HG02973, HG02836, HG03521, NA20332, NA19443, NA19190, NA19314, HG03086, HG03168, HG02810, NA19448, HG02485, HG01488, NA19457, HG02786, HG02634, HG02885, NA19317, HG02420, HG02502, HG03055, HG02882, HG03169, HG02819, HG01124, HG01247, NA19347, HG02307, HG02757, HG03301, HG03085, HG03824, NA19113, HG03451, HG02586, HG02896, HG02484, HG02807, HG02010, HG02546, NA19473, HG03458, HG02611, HG01174, HG03557, HG03681, HG03112, HG03442, NA19438, HG03258, HG01468, HG02052, HG03445, NA18522, HG03198, HG03196
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588914
Frequency
Sample Size2504
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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