A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3648093



Internal ID7034830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50627978..50640523hg38UCSC Ensembl
chr22:51066406..51078951hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3812546
hg1912546
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16462394, essv16462399, essv16462400, essv16462398, essv16462408, essv16462369, essv16462396, essv16462373, essv16462397, essv16462379, essv16462407, essv16462384, essv16462402, essv16462381, essv16462389, essv16462391, essv16462368, essv16462390, essv16462393, essv16462412, essv16462404, essv16462377, essv16462392, essv16462370, essv16462401, essv16462413, essv16462409, essv16462406, essv16462411, essv16462387, essv16462374, essv16462376, essv16462403, essv16462378, essv16462380, essv16462385, essv16462388, essv16462375, essv16462405, essv16462372, essv16462410, essv16462395, essv16462386, essv16462382, essv16462383, essv16462371
SamplesNA20762, HG01173, NA19378, HG03298, HG01325, NA20798, HG03490, HG01766, NA20769, HG02645, NA20768, NA12762, HG03460, HG00338, NA12828, NA18908, HG01605, HG00108, NA19984, NA19391, HG00344, HG03027, HG02470, HG01049, NA19118, NA20901, HG01197, HG01101, HG03451, HG02601, NA06985, NA19160, HG03109, HG02455, NA12716, HG00336, HG02546, HG02611, NA20527, HG01205, NA19468, NA12830, HG03351, NA20807, NA19030, NA20754
Known GenesARSA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3648093
Frequency
Sample Size2504
Observed Gain46
Observed Loss0
Observed Complex0
Frequencyn/a


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