A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591579



Internal ID6978907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:87629180..87698116hg38UCSC Ensembl
chr2:87928699..87997635hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3868937
hg1968937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10573384, essv10573405, essv10573399, essv10573380, essv10573403, essv10573407, essv10573385, essv10573393, essv10573383, essv10573398, essv10573379, essv10573378, essv10573397, essv10573382, essv10573390, essv10573396, essv10573387, essv10573414, essv10573409, essv10573410, essv10573395, essv10573381, essv10573406, essv10573412, essv10573404, essv10573411, essv10573400, essv10573402, essv10573377, essv10573401, essv10573388, essv10573394, essv10573408, essv10573413, essv10573392, essv10573386, essv10573376, essv10573389, essv10573391, essv10573375
SamplesNA19394, HG01485, HG01031, HG03668, HG02017, NA20805, NA18625, HG03515, NA18870, HG03478, NA18597, NA20795, HG00129, HG03885, NA19923, HG03045, NA19026, NA19025, NA11831, HG03709, NA20854, HG02136, HG04146, NA19043, HG03301, NA18531, HG03790, HG03461, HG03084, HG03565, HG01491, NA18631, NA19351, NA19474, HG02679, HG02186, HG01863, NA19463, NA19431, HG01516
Known GenesMIR4435-1, MIR4435-2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591579
Frequency
Sample Size2504
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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