A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1087e214



Internal ID20122510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32105362..32126624hg38UCSC Ensembl
chr5:32105468..32126730hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3821263
hg1921263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3604602, esv3604601
SamplesHG01613, HG03832, HG00356, HG03785, NA18951, HG02138, HG04003, HG00328, NA21123, HG00171, NA20851, HG03874, NA18526, HG04014, HG01777, HG03643, HG03896, HG03709, HG00364, HG01606, HG02375, NA20805, HG04001, NA20314, NA18745, NA20877, NA19654, NA18632, HG00342, HG01254, NA18998, HG02137, NA20849, HG00593, HG00472, NA19068, HG02121, NA19722, NA20807, HG03787, NA18959, NA18637, NA20520, HG02380, NA19679, NA18640, NA18747, NA19759, HG01308, NA12275, HG01773, HG00273, HG02401, NA20821, HG00341, NA18562, NA18985, HG02026, HG02345, HG01094, HG00445, HG01190, NA18983, HG04022, HG02134, NA18565, HG02230, NA20287, NA19755, NA19649, NA19063, NA19752, NA20792, HG00566, HG03838, HG00690, HG01842, HG00345, HG02064, HG03777
Known GenesGOLPH3, PDZD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1087e214
Frequency
Sample Size2504
Observed Gain80
Observed Loss0
Observed Complex0
Frequencyn/a


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