A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588734



Internal ID6976150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211482118..211483450hg38UCSC Ensembl
Innerchr1:211482118..211483450hg38UCSC Ensembl
Outerchr1:211481803..211483734hg38UCSC Ensembl
chr1:211655460..211656792hg19UCSC Ensembl
Innerchr1:211655460..211656792hg19UCSC Ensembl
Outerchr1:211655145..211657076hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381333
hg191333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10285405, essv10285408, essv10285388, essv10285394, essv10285401, essv10285403, essv10285384, essv10285385, essv10285386, essv10285402, essv10285389, essv10285420, essv10285410, essv10285425, essv10285423, essv10285417, essv10285411, essv10285416, essv10285424, essv10285409, essv10285407, essv10285391, essv10285422, essv10285412, essv10285406, essv10285421, essv10285414, essv10285390, essv10285395, essv10285415, essv10285418, essv10285426, essv10285413, essv10285396, essv10285393, essv10285404, essv10285397, essv10285398, essv10285387, essv10285419, essv10285399, essv10285392, essv10285400
SamplesNA19394, HG02614, HG02339, NA20339, HG03163, HG03300, HG02852, HG02419, NA18917, HG03130, HG03521, NA20356, NA19319, NA19448, NA19307, NA18916, NA19197, NA19457, NA19904, NA19384, HG03209, HG03520, HG03195, NA18908, NA19707, NA19913, HG02497, HG02256, HG01956, HG02455, NA19390, NA19321, HG01958, NA18865, HG02982, HG02464, HG02814, NA19475, HG03084, NA18501, NA19474, HG03445, HG02465
Known GenesRD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588734
Frequency
Sample Size2504
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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