A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1086e214



Internal ID20122509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32102570..32202633hg38UCSC Ensembl
chr5:32102676..32202739hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38100064
hg19100064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3604600, esv3604599
SamplesNA18998, NA12717, NA20877, HG01773, NA18565, HG02375, HG02026, HG00364, HG00566, NA18959, HG00341, NA18526, NA19068, HG04022, NA19649, HG03874, NA20287, HG03777, HG02138, NA18985, HG03709, NA18951, HG03785, HG00731, HG03787, HG02345, HG02380, NA20314, NA18637, NA19654, HG01094, HG00273, HG02121, HG01613, HG03643, NA19752, HG00445, HG03940, NA20821, NA18632, HG03838, NA20520, NA19679, HG04003, NA19759, HG01606, HG02401, HG03896, NA20849, HG04014, HG00342, HG01254, NA20289, NA20807, NA18983, HG00472, NA19755, NA19063, NA18562, HG00593
Known GenesGOLPH3, PDZD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1086e214
Frequency
Sample Size2504
Observed Gain60
Observed Loss0
Observed Complex0
Frequencyn/a


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