A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587465



Internal ID6974889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143276001..143294560hg38UCSC Ensembl
chr1:149015523..149036627hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3818560
hg1921105
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv48e214
Supporting Variantsessv10122340, essv10122325, essv10122314, essv10122319, essv10122309, essv10122312, essv10122311, essv10122339, essv10122329, essv10122328, essv10122308, essv10122326, essv10122321, essv10122320, essv10122315, essv10122306, essv10122333, essv10122331, essv10122343, essv10122350, essv10122351, essv10122349, essv10122334, essv10122341, essv10122342, essv10122347, essv10122323, essv10122345, essv10122324, essv10122348, essv10122307, essv10122303, essv10122313, essv10122346, essv10122322, essv10122344, essv10122310, essv10122316, essv10122305, essv10122327, essv10122318, essv10122304, essv10122336, essv10122332, essv10122337, essv10122338, essv10122335, essv10122330, essv10122317
SamplesHG03800, HG00102, HG01961, HG02836, HG03115, HG01806, HG03941, HG03455, HG00115, HG03235, HG02562, NA19731, HG01046, HG01950, HG02427, NA19921, HG03709, HG02009, HG00629, HG03160, HG01187, HG02075, HG02025, HG01938, HG00436, HG03900, HG02102, NA18976, NA18548, NA20859, NA18946, NA18553, HG02332, HG01257, HG02557, HG03692, NA19090, HG02941, HG02274, HG03789, HG03642, HG01912, HG03849, HG03279, HG02182, HG03470, HG01920, HG02760, HG01747
Known GenesLOC101929780
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587465
Frequency
Sample Size2504
Observed Gain49
Observed Loss0
Observed Complex0
Frequencyn/a


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